Author: "Heid, I.M. (Iris)" - Searchworks@Jio Institute Digital Library Search Results

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29 results on '"Heid, I.M. (Iris)"'

1. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author: Gorski, M. (Mathias), Jung, B. (Bettina), Li, Y. (Yong), Matias-Garcia, P.R. (Pamela R.), Wuttke, M. (Matthias), Coassin, S. (Stefan), Thio, C.H.L. (Chris H.L.), Kleber, M.E. (Marcus E.), Winkler, T.W. (Thomas W.), Wanner, V. (Veronika), Chai, J.-F. (Jin-Fang), Chu, A.Y. (Audrey Y), Cocca, M. (Massimiliano), Feitosa, M.F. (Mary Furlan), Ghasemi, S. (Sahar), Hoppmann, A. (Anselm), Horn, K. (Katrin), Li, M. (Man), Nutile, T. (Teresa), Scholz, M. (Markus), Sieber, K.B. (Karsten B.), Teumer, A. (Alexander), Tin, A. (Adrienne), Wang, J. (Judy), Tayo, B. (Bamidele), Ahluwalia, T.S. (Tarunveer Singh), Almgren, P. (Peter), Bakker, S.J.L. (Stephan), Banas, B. (Bernhard), Bansal, N. (Nisha), Biggs, M.L. (M.), Boerwinkle, E.A. (Eric), Bottinger, E.P. (Erwin), Brenner, H. (Hermann), Carroll, R.J. (Robert J.), Chalmers, J. (John), Chee, M.-L. (Miao-Li), Chee, M.-L. (Miao-Ling), Cheng, C.-Y. (Ching-Yu), Coresh, J. (Josef), de Borst, M.H. (Martin H.), Degenhardt, F. (Frauke), Eckardt, K.-U. (Kai-Uwe), Endlich, K. (Karlhans), Franke, A. (Andre), Freitag-Wolf, S. (Sandra), Gampawar, P. (Piyush), Gansevoort, R.T. (Ron), Ghanbari, M. (Mohsen), Gieger, C. (Christian), Hamet, P. (Pavel), Ho, K. (Kevin), Hofer, E. (Edith), Holleczek, B. (B.), Xian Foo, V.H. (Valencia Hui), Hutri-Kähönen, N. (Nina), Hwang, S.-J. (Shih-Jen), Ikram, M.A. (Arfan), Josyula, N.S. (Navya Shilpa), Kähönen, M. (Mika), Khor, C.C., Koenig, W. (Wolfgang), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kuhnel, B. (Brigitte), Lange, L.A. (Leslie A.), Lehtimäki, T. (Terho), Lieb, W. (Wolfgang), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (H. Marike), Franke, L. (Lude), van der Harst, P. (Pim), Matullo, G., Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M. (Morris), Wolffenbuttel, B.H.R. (Bruce), Wijmenga, C. (Cisca), Abecasis, G.R. (Gonçalo), Baras, A. (Aris), Cantor, M. (Michael), Coppola, G. (Giovanni), Economides, A. (Aris), Lotta, L.A. (Luca A.), Overton, J.D. (John D.), Reid, J.G. (Jeffrey G.), Shuldiner, A. (Alan), Beechert, C. (Christina), Forsythe, C. (Caitlin), Fuller, E.D. (Erin D.), Gu, Z. (Zhenhua), Lattari, M. (Michael), Lopez, A. (Alexander), Schleicher, T.D. (Thomas D.), Padilla, M.S. (Maria Sotiropoulos), Toledo, K. (Karina), Widom, L. (Louis), Wolf, S.E. (Sarah E.), Pradhan, M. (Manasi), Manoochehri, K. (Kia), Ulloa, R.H. (Ricardo H.), Bai, X. (Xiaodong), Balasubramanian, S. (Suganthi), Barnard, L. (Leland), Blumenfeld, A. (Andrew), Eom, G. (Gisu), Habegger, L. (Lukas), Hawes, A. (Alicia), Khalid, S. (Shareef), Maxwell, E.K. (Evan K.), Salerno, W. (William), Staples, J.C. (Jeffrey C.), Jones, M.B. (Marcus B.), Mitnaul, L.J. (Lyndon), Loos, R.J.F. (Ruth J.F.), Lukas, M.A. (Mary Ann), Lyytikäinen, L.-P. (Leo-Pekka), Meisinger, C. (Christa), Meitinger, T. (Thomas), Melander, O. (Olle), Milaneschi, Y. (Yuri), Mishra, P.P. (Pashupati P.), Mononen, N. (Nina), Mychaleckyj, J.C. (Josyf), Nadkarni, G. (Girish), Nauck, M. (Matthias), Nikus, K. (Kjell), Ning, B. (Boting), Nolte, I.M. (Ilja), O'Donoghue, M.L. (Michelle L.), Orho-Melander, M. (Marju), Pendergrass, S.A. (Sarah), Penninx, B.W.J.H. (Brenda), Preuss, M. (Michael), Psaty, B.M. (Bruce M.), Raffield, L.M. (Laura M.), Raitakari, O. (Olli), Rettig, R. (Rainer), Rheinberger, M. (Myriam), Rice, K.M. (Kenneth M.), Rosenkranz, A.R. (Alexander R.), Rossing, K., Rotter, J.I. (Jerome I.), Sabanayagam, C. (Charumathi), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Schöttker, B. (Ben), Schulz, C.A. (Christina Alexandra), Sedaghat, S. (Sanaz), Shaffer, C.M. (Christian M.), Strauch, K. (Konstantin), Szymczak, S. (Silke), Taylor, K.D. (Kent D.), Tremblay, J. (Johanne), Chaker, L. (Layal), Most, P.J. (Peter) van der, Verweij, N. (Niek), Völker, U. (Uwe), Waldenberger, M. (Melanie), Wallentin, L.C. (Lars), Waterworth, D.M. (Dawn M.), White, H.D. (Harvey), Wilson, J.G. (James G.), Wong, T.-Y. (Tien-Yin), Woodward, M. (Mark), Yang, Q. (Qiong), Yasuda, M. (Masayuki), Yerges-Armstrong, L.M. (Laura), Zhang, Y. (Yan), Wanner, C. (Christoph), Böger, C.A. (Carsten), Köttgen, A. (Anna), Kronenberg, F. (Florian), Penninx, B.W.J.H., Heid, I.M. (Iris), Gorski, M. (Mathias), Jung, B. (Bettina), Li, Y. (Yong), Matias-Garcia, P.R. (Pamela R.), Wuttke, M. (Matthias), Coassin, S. (Stefan), Thio, C.H.L. (Chris H.L.), Kleber, M.E. (Marcus E.), Winkler, T.W. (Thomas W.), Wanner, V. (Veronika), Chai, J.-F. (Jin-Fang), Chu, A.Y. (Audrey Y), Cocca, M. (Massimiliano), Feitosa, M.F. (Mary Furlan), Ghasemi, S. (Sahar), Hoppmann, A. (Anselm), Horn, K. (Katrin), Li, M. (Man), Nutile, T. (Teresa), Scholz, M. (Markus), Sieber, K.B. (Karsten B.), Teumer, A. (Alexander), Tin, A. (Adrienne), Wang, J. (Judy), Tayo, B. (Bamidele), Ahluwalia, T.S. (Tarunveer Singh), Almgren, P. (Peter), Bakker, S.J.L. (Stephan), Banas, B. (Bernhard), Bansal, N. (Nisha), Biggs, M.L. (M.), Boerwinkle, E.A. (Eric), Bottinger, E.P. (Erwin), Brenner, H. (Hermann), Carroll, R.J. (Robert J.), Chalmers, J. (John), Chee, M.-L. (Miao-Li), Chee, M.-L. (Miao-Ling), Cheng, C.-Y. (Ching-Yu), Coresh, J. (Josef), de Borst, M.H. (Martin H.), Degenhardt, F. (Frauke), Eckardt, K.-U. (Kai-Uwe), Endlich, K. (Karlhans), Franke, A. (Andre), Freitag-Wolf, S. (Sandra), Gampawar, P. (Piyush), Gansevoort, R.T. (Ron), Ghanbari, M. (Mohsen), Gieger, C. (Christian), Hamet, P. (Pavel), Ho, K. (Kevin), Hofer, E. (Edith), Holleczek, B. (B.), Xian Foo, V.H. (Valencia Hui), Hutri-Kähönen, N. (Nina), Hwang, S.-J. (Shih-Jen), Ikram, M.A. (Arfan), Josyula, N.S. (Navya Shilpa), Kähönen, M. (Mika), Khor, C.C., Koenig, W. (Wolfgang), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kuhnel, B. (Brigitte), Lange, L.A. (Leslie A.), Lehtimäki, T. (Terho), Lieb, W. (Wolfgang), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (H. Marike), Franke, L. (Lude), van der Harst, P. (Pim), Matullo, G., Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M. (Morris), Wolffenbuttel, B.H.R. (Bruce), Wijmenga, C. (Cisca), Abecasis, G.R. (Gonçalo), Baras, A. (Aris), Cantor, M. (Michael), Coppola, G. (Giovanni), Economides, A. (Aris), Lotta, L.A. (Luca A.), Overton, J.D. (John D.), Reid, J.G. (Jeffrey G.), Shuldiner, A. (Alan), Beechert, C. (Christina), Forsythe, C. (Caitlin), Fuller, E.D. (Erin D.), Gu, Z. (Zhenhua), Lattari, M. (Michael), Lopez, A. (Alexander), Schleicher, T.D. (Thomas D.), Padilla, M.S. (Maria Sotiropoulos), Toledo, K. (Karina), Widom, L. (Louis), Wolf, S.E. (Sarah E.), Pradhan, M. (Manasi), Manoochehri, K. (Kia), Ulloa, R.H. (Ricardo H.), Bai, X. (Xiaodong), Balasubramanian, S. (Suganthi), Barnard, L. (Leland), Blumenfeld, A. (Andrew), Eom, G. (Gisu), Habegger, L. (Lukas), Hawes, A. (Alicia), Khalid, S. (Shareef), Maxwell, E.K. (Evan K.), Salerno, W. (William), Staples, J.C. (Jeffrey C.), Jones, M.B. (Marcus B.), Mitnaul, L.J. (Lyndon), Loos, R.J.F. (Ruth J.F.), Lukas, M.A. (Mary Ann), Lyytikäinen, L.-P. (Leo-Pekka), Meisinger, C. (Christa), Meitinger, T. (Thomas), Melander, O. (Olle), Milaneschi, Y. (Yuri), Mishra, P.P. (Pashupati P.), Mononen, N. (Nina), Mychaleckyj, J.C. (Josyf), Nadkarni, G. (Girish), Nauck, M. (Matthias), Nikus, K. (Kjell), Ning, B. (Boting), Nolte, I.M. (Ilja), O'Donoghue, M.L. (Michelle L.), Orho-Melander, M. (Marju), Pendergrass, S.A. (Sarah), Penninx, B.W.J.H. (Brenda), Preuss, M. (Michael), Psaty, B.M. (Bruce M.), Raffield, L.M. (Laura M.), Raitakari, O. (Olli), Rettig, R. (Rainer), Rheinberger, M. (Myriam), Rice, K.M. (Kenneth M.), Rosenkranz, A.R. (Alexander R.), Rossing, K., Rotter, J.I. (Jerome I.), Sabanayagam, C. (Charumathi), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Schöttker, B. (Ben), Schulz, C.A. (Christina Alexandra), Sedaghat, S. (Sanaz), Shaffer, C.M. (Christian M.), Strauch, K. (Konstantin), Szymczak, S. (Silke), Taylor, K.D. (Kent D.), Tremblay, J. (Johanne), Chaker, L. (Layal), Most, P.J. (Peter) van der, Verweij, N. (Niek), Völker, U. (Uwe), Waldenberger, M. (Melanie), Wallentin, L.C. (Lars), Waterworth, D.M. (Dawn M.), White, H.D. (Harvey), Wilson, J.G. (James G.), Wong, T.-Y. (Tien-Yin), Woodward, M. (Mark), Yang, Q. (Qiong), Yasuda, M. (Masayuki), Yerges-Armstrong, L.M. (Laura), Zhang, Y. (Yan), Wanner, C. (Christoph), Böger, C.A. (Carsten), Köttgen, A. (Anna), Kronenberg, F. (Florian), Penninx, B.W.J.H., and Heid, I.M. (Iris)
Abstract: Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more (“Rapid3”; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea 60 mL/min/1.73m2 or more at baseline (“CKDi25”; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized varia
Published: 2021
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2. Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

Author: Teumer, A. (Alexander), Li, Y. (Yong), Ghasemi, S. (Sahar), Prins, B.P. (Bram Peter), Wuttke, M. (Matthias), Hermle, T. (Tobias), Giri, A. (Ayush), Sieber, K.B. (Karsten B.), Qiu, C. (Chengxiang), Kirsten, H. (Holger), Tin, A. (Adrienne), Chu, A.Y. (Audrey Y), Bansal, N. (Nisha), Feitosa, M.F. (Mary Furlan), Wang, L. (Lihua), Chai, J.-F. (Jin-Fang), Cocca, M. (Massimiliano), Fuchsberger, C. (Christian), Gorski, M. (Mathias), Hoppmann, A. (Anselm), Horn, K. (Katrin), Li, M. (Man), Marten, J. (Jonathan), Noce, D. (Damia), Nutile, T. (Teresa), Sedaghat, S. (Sanaz), Sveinbjornsson, G. (Gardar), Tayo, B. (Bamidele), Most, P.J. (Peter) van der, Xu, Y. (Yizhe), Yu, Z. (Zhi), Gerstner, L. (Lea), Ärnlöv, J. (Johan), Bakker, S.J.L. (Stephan), Baptista, D. (Daniela), Biggs, M.L. (M.), Boerwinkle, E.A. (Eric), Brenner, H. (Hermann), Burkhardt, R. (Ralph), Carroll, R.J. (Robert J.), Chee, M.-L. (Miao-Li), Chee, M.-L. (Miao-Ling), Chen, M. (Mengmeng), Cheng, C.-Y. (Ching-Yu), Cook, J.P. (James P.), Coresh, J. (Josef), Corre, T. (Tanguy), Danesh, J. (John), de Borst, M.H. (Martin H.), Grandi, A. (Alessandro) de, Mutsert, R. (Reneé) de, de Vries, A.P.J. (Aiko P J), Degenhardt, F. (Frauke), Dittrich, K. (Katalin), Divers, J. (Jasmin), Eckardt, K.-U. (Kai-Uwe), Ehret, G.B. (Georg), Endlich, K. (Karlhans), Felix, J.F. (Janine), Franco, O.H. (Oscar), Franke, A. (Andre), Freedman, B.I. (Barry), Freitag-Wolf, S. (Sandra), Gansevoort, R.T. (Ron), Giedraitis, V. (Vilmantas), Gögele, M. (Martin), Grundner-Culemann, F. (Franziska), Gudbjartsson, D.F. (Daniel), Gudnason, V. (Vilmundur), Hamet, P. (Pavel), Harris, T.B. (Tamara), Hicks, A.A. (Andrew A.), Holm, H. (Hilma), Foo, V.H.X. (Valencia Hui Xian), Hwang, S.-J. (Shih-Jen), Ikram, M.A. (Arfan), Ingelsson, E. (Erik), Jaddoe, V.W.V. (Vincent), Jakobsdottir, M. (Margret), Josyula, N.S. (Navya Shilpa), Jung, B. (Bettina), Kähönen, M. (Mika), Khor, C.C., Kieß, W. (Wieland), Koenig, W. (Wolfgang), Körner, A. (Antje), Kovacs, P. (Peter), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kronenberg, F. (Florian), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Lee, J.J.-M. (Jeannette Jen-Mai), Lehtimäki, T. (Terho), Lieb, W. (Wolfgang), Lim, S.-C. (Su-Chi), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Liu, J. (Jianjun), Loeffler, M. (Markus), Lyytikäinen, L.-P. (Leo-Pekka), Mahajan, A. (Anubha), Maranville, J.C. (Joseph C.), Mascalzoni, D. (Deborah), McMullen, B. (Barbara), Meisinger, C. (Christa), Meitinger, T. (Thomas), Miliku, K. (Kozeta), Mook-Kanamori, D.O. (Dennis O.), Müller-Nurasyid, M. (Martina), Mychaleckyj, J.C. (Josyf), Nauck, M. (Matthias), Nikus, K. (Kjell), Ning, B. (Boting), Noordam, R. (Raymond), Connell, J.O. (Jeffrey O'), Olafsson, I. (Isleifur), Palmer, N.D. (Nicholette), Peters, A. (Annette), Podgornaia, A.I. (Anna I.), Ponte, B. (Belen), Poulain, T. (Tanja), Pramstaller, P.P. (Peter Paul), Rabelink, T. (Ton), Raffield, L.M. (Laura M.), Reilly, D.F. (Dermot F.), Rettig, R. (Rainer), Rheinberger, M. (Myriam), Rice, K.M. (Kenneth), Rivadeneira, F. (Fernando), Runz, H. (Heiko), Ryan, K.A. (Kathleen A.), Sabanayagam, C. (Charumathi), Saum, K.-U. (Kai-Uwe), Schöttker, B. (Ben), Shaffer, C.M. (Christian M.), Shi, Y. (Yuan), Smith, A.V. (Albert), Strauch, K. (Konstantin), Stumvoll, M. (Michael), Sun, B.B. (Benjamin B.), Szymczak, S. (Silke), Tai, E.-S. (E-Shyong), Tan, N.Y.Q. (Nicholas Y Q), Taylor, K.D. (Kent), Teren, A. (Andrej), Tham, Y.-C. (Yih-Chung), Thiery, J. (Joachim), Thio, C.H.L. (Chris H L), Thomsen, H. (Hauke), Thorsteinsdottir, U. (Unnur), Tönjes, A. (Anke), Tremblay, J. (Johanne), Uitterlinden, A.G. (André), Harst, P. (Pim) van der, Verweij, N. (Niek), Vogelezang, S., Völker, U. (Uwe), Waldenberger, M. (Melanie), Wang, C. (Chunliang), Wilson, O.D. (Otis D.), Wong, C. (Charlene), Wong, T.-Y. (Tien-Yin), Yang, Q. (Qiong), Yasuda, M. (Masayuki), Akilesh, S. (Shreeram), Bochud, M. (Murielle), Böger, C.A. (Carsten), Devuyst, O. (Olivier), Edwards, T.L. (Todd L.), Ho, K. (Kevin), Morris, A.P. (Andrew), Parsa, A. (Afshin), Pendergrass, S.A. (Sarah), Psaty, B.M. (Bruce), Rotter, J.I. (Jerome I.), Zwart, J-A. (John-Anker), Wilson, J.F. (James), Susztak, K. (Katalin), Snieder, H. (Harold), Heid, I.M. (Iris), Scholz, M. (Markus), Butterworth, A.S. (Adam S.), Hung, A.M. (Adriana M.), Penninx, B.W.J.H., Köttgen, A. (Anna), Teumer, A. (Alexander), Li, Y. (Yong), Ghasemi, S. (Sahar), Prins, B.P. (Bram Peter), Wuttke, M. (Matthias), Hermle, T. (Tobias), Giri, A. (Ayush), Sieber, K.B. (Karsten B.), Qiu, C. (Chengxiang), Kirsten, H. (Holger), Tin, A. (Adrienne), Chu, A.Y. (Audrey Y), Bansal, N. (Nisha), Feitosa, M.F. (Mary Furlan), Wang, L. (Lihua), Chai, J.-F. (Jin-Fang), Cocca, M. (Massimiliano), Fuchsberger, C. (Christian), Gorski, M. (Mathias), Hoppmann, A. (Anselm), Horn, K. (Katrin), Li, M. (Man), Marten, J. (Jonathan), Noce, D. (Damia), Nutile, T. (Teresa), Sedaghat, S. (Sanaz), Sveinbjornsson, G. (Gardar), Tayo, B. (Bamidele), Most, P.J. (Peter) van der, Xu, Y. (Yizhe), Yu, Z. (Zhi), Gerstner, L. (Lea), Ärnlöv, J. (Johan), Bakker, S.J.L. (Stephan), Baptista, D. (Daniela), Biggs, M.L. (M.), Boerwinkle, E.A. (Eric), Brenner, H. (Hermann), Burkhardt, R. (Ralph), Carroll, R.J. (Robert J.), Chee, M.-L. (Miao-Li), Chee, M.-L. (Miao-Ling), Chen, M. (Mengmeng), Cheng, C.-Y. (Ching-Yu), Cook, J.P. (James P.), Coresh, J. (Josef), Corre, T. (Tanguy), Danesh, J. (John), de Borst, M.H. (Martin H.), Grandi, A. (Alessandro) de, Mutsert, R. (Reneé) de, de Vries, A.P.J. (Aiko P J), Degenhardt, F. (Frauke), Dittrich, K. (Katalin), Divers, J. (Jasmin), Eckardt, K.-U. (Kai-Uwe), Ehret, G.B. (Georg), Endlich, K. (Karlhans), Felix, J.F. (Janine), Franco, O.H. (Oscar), Franke, A. (Andre), Freedman, B.I. (Barry), Freitag-Wolf, S. (Sandra), Gansevoort, R.T. (Ron), Giedraitis, V. (Vilmantas), Gögele, M. (Martin), Grundner-Culemann, F. (Franziska), Gudbjartsson, D.F. (Daniel), Gudnason, V. (Vilmundur), Hamet, P. (Pavel), Harris, T.B. (Tamara), Hicks, A.A. (Andrew A.), Holm, H. (Hilma), Foo, V.H.X. (Valencia Hui Xian), Hwang, S.-J. (Shih-Jen), Ikram, M.A. (Arfan), Ingelsson, E. (Erik), Jaddoe, V.W.V. (Vincent), Jakobsdottir, M. (Margret), Josyula, N.S. (Navya Shilpa), Jung, B. (Bettina), Kähönen, M. (Mika), Khor, C.C., Kieß, W. (Wieland), Koenig, W. (Wolfgang), Körner, A. (Antje), Kovacs, P. (Peter), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kronenberg, F. (Florian), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Lee, J.J.-M. (Jeannette Jen-Mai), Lehtimäki, T. (Terho), Lieb, W. (Wolfgang), Lim, S.-C. (Su-Chi), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Liu, J. (Jianjun), Loeffler, M. (Markus), Lyytikäinen, L.-P. (Leo-Pekka), Mahajan, A. (Anubha), Maranville, J.C. (Joseph C.), Mascalzoni, D. (Deborah), McMullen, B. (Barbara), Meisinger, C. (Christa), Meitinger, T. (Thomas), Miliku, K. (Kozeta), Mook-Kanamori, D.O. (Dennis O.), Müller-Nurasyid, M. (Martina), Mychaleckyj, J.C. (Josyf), Nauck, M. (Matthias), Nikus, K. (Kjell), Ning, B. (Boting), Noordam, R. (Raymond), Connell, J.O. (Jeffrey O'), Olafsson, I. (Isleifur), Palmer, N.D. (Nicholette), Peters, A. (Annette), Podgornaia, A.I. (Anna I.), Ponte, B. (Belen), Poulain, T. (Tanja), Pramstaller, P.P. (Peter Paul), Rabelink, T. (Ton), Raffield, L.M. (Laura M.), Reilly, D.F. (Dermot F.), Rettig, R. (Rainer), Rheinberger, M. (Myriam), Rice, K.M. (Kenneth), Rivadeneira, F. (Fernando), Runz, H. (Heiko), Ryan, K.A. (Kathleen A.), Sabanayagam, C. (Charumathi), Saum, K.-U. (Kai-Uwe), Schöttker, B. (Ben), Shaffer, C.M. (Christian M.), Shi, Y. (Yuan), Smith, A.V. (Albert), Strauch, K. (Konstantin), Stumvoll, M. (Michael), Sun, B.B. (Benjamin B.), Szymczak, S. (Silke), Tai, E.-S. (E-Shyong), Tan, N.Y.Q. (Nicholas Y Q), Taylor, K.D. (Kent), Teren, A. (Andrej), Tham, Y.-C. (Yih-Chung), Thiery, J. (Joachim), Thio, C.H.L. (Chris H L), Thomsen, H. (Hauke), Thorsteinsdottir, U. (Unnur), Tönjes, A. (Anke), Tremblay, J. (Johanne), Uitterlinden, A.G. (André), Harst, P. (Pim) van der, Verweij, N. (Niek), Vogelezang, S., Völker, U. (Uwe), Waldenberger, M. (Melanie), Wang, C. (Chunliang), Wilson, O.D. (Otis D.), Wong, C. (Charlene), Wong, T.-Y. (Tien-Yin), Yang, Q. (Qiong), Yasuda, M. (Masayuki), Akilesh, S. (Shreeram), Bochud, M. (Murielle), Böger, C.A. (Carsten), Devuyst, O. (Olivier), Edwards, T.L. (Todd L.), Ho, K. (Kevin), Morris, A.P. (Andrew), Parsa, A. (Afshin), Pendergrass, S.A. (Sarah), Psaty, B.M. (Bruce), Rotter, J.I. (Jerome I.), Zwart, J-A. (John-Anker), Wilson, J.F. (James), Susztak, K. (Katalin), Snieder, H. (Harold), Heid, I.M. (Iris), Scholz, M. (Markus), Butterworth, A.S. (Adam S.), Hung, A.M. (Adriana M.), Penninx, B.W.J.H., and Köttgen, A. (Anna)
Abstract: Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated loci. Genetic correlation analyses and risk score associations in an independent electronic medical records database (n = 192,868) reveal connections with proteinuria, hyperlipidemia, gout, and hypertension. Fine-mapping and trans-Omics analyses with gene expression in 47 tissues and plasma protein levels implicate genes potentially operating through differential expression in kidney (including TGFB1, MUC1, PRKCI, and OAF), and allow coupling of UACR associations to altered plasma OAF concentrations. Knockdown of OAF and PRKCI orthologs in Drosophila nephrocytes reduces albumin endocytosis. Silencing fly PRKCI further impairs slit diaphragm formation. These results generate a priority list of genes and pathways for translational research to reduce albuminuria.
Published: 2019
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3. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Author: Hinney, A. (Anke), Kesselmeier, M. (M.), Jall, S. (S.), Volckmar, A.-L. (A. L.), Föcker, M. (M.), Antel, J. (J.), Heid, I.M. (Iris), Winkler, T.W. (Thomas W.), Grant, S.F.A. (S. F.A.), Guo, Y. (Yongli), Bergen, A.W. (Andrew), Grant, S.F.A. (Struan), Berrettini, W. (Wade), Hakonarson, H. (Hakon), Herpertz-Dahlmann, B. (B.), De Zwaan, M. (M.), Herzog, W. (W.), Ehrlich, S.M. (Stefan), Zipfel, S. (S.), Egberts, K. (Karin), Adan, R. (R.), Brandys, M. (M.), Elburg, A.A. (Annemarie) van, Boraska Perica, V. (V.), Müller, T.D., Tschöp, M.H. (M. H.), Zeggini, E. (Eleftheria), Bulik, C.M. (C. M.), Collier, D.A. (David), Scherag, A. (A.), Hebebrand, J. (J.), Tschop, M. (Matthias), Floyd, J. (Jamie), Thornton, L.M. (Laura), Huckins, L.M. (Laura M), Southam, L. (Lorraine), Rayner, N.W. (Nigel William), Tachmazidou, I. (Ioanna), Klump, K.L. (K. L.), Treasure, J. (Janet), Lewis, C.M. (Cathryn), Schmidt, U. (Ulrike), Tozzi, F. (Federica), Iezebrink, K. (Kirsty), Gorwood, P. (Philip), Kas, M.J.H. (Martien), Favaro, A. (Angela), Santonastaso, P. (Paolo), Fernández-Aranda, F. (Fernando), Gratacos, M. (Monica), Rybakowski, F. (Filip), Dmitrzak-Weglarz, M. (Monika), Kaprio, J. (Jaakko), Keski-Rahkonen, A. (Anna), Raevuori-Helkamaa, A. (Anu), Furth, E.F. (Eric) van, Slof-Op’t Landt, M.C.T. (Margarita C. T.), Hudson, J.I. (James I), Knudsen, G.P.S. (Gun Peggy S.), Monteleone, P. (Palmiero), Kaplan, A.S. (Allan S), Karwautz, A. (Andreas), Li, D. (Dong), Komaki, G. (Gen), Ando, T. (Tetsuya), Inoko, H. (Hidetoshi), Esko, T. (T.), Fischer, K. (Krista), Männik, K. (Katrin), Metspalu, A. (Andres), Baker, J.H. (Jessica H), Cone, R.D. (Roger D), Esko, T. (Tõnu), DeSocio, J.E. (Janiece E), Hilliard, C.E. (Christopher E), O’Toole, J.K. (Julie K), Pantel, J. (Jacques), Szatkiewicz, J.P. (Jin P), Taico, C. (Chrysecolla), Zerwas, S. (Stephanie), Trace, S.E. (Sara E), Davis, O.S.P. (Oliver S.), Helder, S. (Sietske), Bühren, K. (Katharina), Burghardt, R. (Roland), Imgart, H. (Hartmut), Scherag, A. (Andre), Boni, C. (Claudette), Ramoz, N. (Nicolas), Versini, A. (Audrey), Danner, U.N. (Unna N), de Kove, C. (Carolien), Hendriks, J. (Judith), Koeleman, B.P.C. (Bobby P. C.), Ophoff, R.A. (Roel), Strengman, E. (Eric), Bruson, A. (Alice), Clementi, M. (Maurizio), Degortes, D. (Daniela), Forzan, M. (Monica), Tenconi, E. (Elena), Docampo, E. (Elisa), Jiménez-Murcia, G.E.S. (Geòrgia Escaramí Susana), Lissowska, J. (Jolanta), Rajewski, A. (Andrzej), Szeszenia-Dabrowska, N. (Neonila), Slopien, A. (Agnieszka), Hauser, J. (J.), Karhunen, L. (Leila), Meulenbelt, I. (Ingrid), Slagboom, P.E. (Eline), Tortorella, A. (Alfonso), Maj, M. (Mario), Dedoussis, G.V. (George), Dedoussis, G.V. (G. V.), Koeleman, B.P.C. (Bobby), Gonidakis, F. (Fragiskos), Tziouvas, K. (Konstantinos), Tsitsika, A. (Artemis), Papezova, H. (Hana), Slachtova, L. (Lenka), Martaskova, D. (Debora), Kennedy, J.L., Levitan, R.D. (Robert D), Yilmaz, Z. (Zeynep), Huemer, J. (Julia), Koubek, D. (Doris), Merl, E. (Elisabeth), Wagner, G. (Gudrun), Lichtenstein, P. (Paul), Breen, G. (Gerome), Cohen-Woods, S. (Sarah), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Cichon, S. (Sven), Giegling, I. (Ina), Herms, S. (Stefan), Rujescu, D. (Dan), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Sladek, R. (Rob), Gambaro, G. (Giovanni), Soranzo, N. (Nicole), Julia, A. (Antonio), Marsal, S. (Sara), Rabionet, R. (Raquel), Gaborieau, V. (Valerie), Dick, D.M. (Danielle), Palotie, A. (A.), Ripatti, S. (Samuli), Widen, E., Espeseth, T. (Thomas), Lundervold, A.J. (Astri), Reinvang, I. (Ivar), Steen, V.M. (Vidar), Le Hellard, S. (Stephanie), Mattingsdal, M. (Morten), Ntalla, I. (Ioanna), Bencko, V. (Vladimir), Foretova, L. (Lenka), Janout, V. (Vladimir), Navratilova, M. (Marie), Pinto, D. (Dalila), Scherer, S.W. (Stephen W), Carlberg, L. (Laura), Schosser, A. (Alexandra), Alfredsson, L. (Lars), Pinto, D. (Duane), Scherer, S.W. (Stephen), Padyukov, L. (Leonid), Finan, C. (Chris), Kalsi, G. (Gursharan), Roberts, M. (Marion), Logan, D.W. (Darren W), Peltonen, L. (Leena Johanna), Ritchie, G.R.S. (Graham R.S.), Barrett, J.C. (Jeffrey), Estivill, X. (Xavier), Sullivan, P.F. (Patrick), Anderson, C.A. (Carl A), McGinnis, R. (Ralph), Sambrook, J. (Jennifer), Stephens, J. (Jonathan), Ouwehand, W.H. (Willem), McArdle, P.F. (P. F.), Ring, S.M. (Susan), Strachan, D.P. (David), Alexander, G. (Graeme), Conlon, P.J. (Peter J), Dominiczak, A. (Anna), Duncanson, A. (Audrey), Padyukov, L. (L.), Langford, C. (Cordelia), Lord, G. (Graham), Conlon, P. (Peter), Sandford, R. (Richard), Sheerin, N. (Neil), Vannberg, F.O. (Frederik O), Blackburn, H. (Hannah), Maxwell, A.P. (A.), Edkins, T. (Ted), Gillman, M.W. (Matthew W.), Gray, E. (Emma), Hunt, S.E. (Sarah E), Nengut, S.-G. (Suna-Gumuscu), Potter, S.C. (Simon), Rich, S.S. (Stephen), Simpkin, D. (Douglas), Whittaker, P. (Pamela), Ang, W.Q. (Wei), Atalay, M. (Mustafa), Beijsterveldt, C.E.M. (Toos) van, Bergen, N. (N.), Benke, K. (K.), Berry, D. (Diane), Boomsma, D.I. (Dorret), Bradfield, J.P. (Jonathan), Charoen, P. (Pimphen), Coin, L. (Lachlan), Cooper, C. (C.), Cousminer, D.L. (Diana), Das, S. (Shikta), Elliott, P. (P.), Evans, D.M. (D. M.), Feenstra, B. (B.), Flexeder, C. (Claudia), Frayling, T.M. (Timothy), Freathy, R.M. (Rachel), Gaillard, R. (R.), Geller, F. (Frank), Groen-Blokhuis, M. (Maria), Goh, L.K. (L. K.), Guxens Junyent, M. (Mònica), Hattersley, A.T. (Andrew), Haworth, C.M.A. (Claire M.), Hadley, D. (D.), Heinrich, J. (J.), Hirschhorn, J.N. (Joel), Hocher, B. (Berthold), Holloway, J.W. (J. W.), Holst, J.J., Hottenga, J.J. (Jouke Jan), Horikoshi, M. (Momoko), Huikari, V. (Ville), Hypponen, E. (E.), Iñiguez, C. (C.), Jaddoe, V.W. (V. W.), Jarvelin, M.R. (M. R.), Kaakinen, M. (M.), Kilpeläinen, T.O. (Tuomas), Hypponen, E. (Elina), Kowgier, M. (Matthew), Lakka, T.A. (Timo), Cooper, C. (Charles), Lange, L.A. (Leslie), Lawlor, D.A. (D. A.), Lehtimäki, T. (Terho), Lewin, A. (Alex), Elliott, P. (Paul), Lindi, V. (Virpi), Maggi, R. (Reedik), Feenstra, B. (Bjarke), McCarthy, M.I. (M. I.), Melbye, M. (Mads), Middeldorp, C.M. (Christel), Millwood, I.Y. (Iona), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (D. O.), Murray, J.C. (Jeffrey), Nivard, M. (Michel), Nohr, C. (Christian), Oken, E. (Emily), Ong, K.K. (K. K.), O'Reilly, P.F. (P. F.), Palmer, C. (Cameron), Panoutsopoulou, K. (K.), Pararajasingham, J. (Jennifer), Pearson, E.R. (E. R.), Pennell, C.E. (Craig), Power, C. (Christopher), Price, T.S. (Thomas), Prokopenko, I. (Inga), Raitakari, O.T. (O. T.), Rodriguez, A. (A.), Salem, R.M. (Rany), Saw, S.M. (S. M.), Sebert, S. (S.), Siitonen, N. (Niina), Jaddoe, V.W.V. (Vincent), Sørensen, T.I.A. (Thorkild), Sovio, U. (Ulla), Lawlor, D.A. (Debbie), Sunyer, J. (J.), Taal, H.R. (Rob), Teo, Y.Y. (Y. Y.), Thiering, E. (Elisabeth), Tiesler, C. (C.), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Valcárcel, B. (Beatriz), Teo, Y.Y. (Yik Ying), White, S.J. (Stefan), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (J. F.), Yaghootkar, H. (H.), Elks, C.E. (Cathy), Perry, J.R. (J. R.), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (C.), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (E. M.), Gudbjartsson, D.F. (Daniel), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (P.), Mangino, M. (Massimo), Byrne, E.M. (Enda), Smith, A.V. (Albert), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (J. H.), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Smith, A.V. (Davey), Chanock, S.J. (Stephen), Warrington, M. (M.), Zgaga, L. (L.), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (T.), Ulivi, S. (Shelia), Sunyer, J. (Jordi), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Boerwinkle, E. (E.), Buring, J.E. (Julie), Busonero, F. (F.), Barroso, I.E. (Inês), Chanock, S.J. (S. J.), Warrington, N.M. (Nicole), Couper, D.J. (David), Coviello, A.D. (Andrea), Busonero, F., Faire, U. (Ulf) de, de Geus, E.J. (E. J.), Deloukas, P. (Panagiotis), Döring, A. (Angela), Davey Smith, G. (G.), Adamo, P. (Pio) d', Eiriksdottir, G. (Gudny), Geus, E.J.C. (Eco) de, Hagen, K. (Knut), Ferrucci, L. (L.), Folsom, A.R. (A. R.), Foroud, T. (T.), Garcia, M.E. (M.), Gasparini, P. (P.), Gieger, C. (Christian), Gudnason, V. (V.), Folsom, A.R. (Aaron), Hankinson, S.E. (S. E.), Ferreli, L. (Liana), Gasparini, P. (Paolo), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (F. B.), Illig, T. (T.), Jarvelin, M.-R. (Marjo-Riitta), Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K.T. (K. T.), Kiel, D.P. (Douglas P.), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S. (J. S.), Li, S. (S.), Liu, J. (J.), Levy, D. (D.), Martin, N.G. (N. G.), Aspelund, T. (Thor), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (M.), Ness, A.R. (A. R.), Boerwinkle, E.A. (Eric), Oostra, B.A. (Ben), Peacock, M. (M.), Pare, G. (Guillame), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Cornelis, M. (Marilyn), Polasek, O. (Ozren), Plump, A.S. (A. S.), Peacock, M. (Munro), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Rivadeneira, F. (F.), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (D.), Scuteri, A. (A.), Segrè, A.V. (Ayellet), Foroud, T. (Tatiana), Srinivasan, S.R. (Sathanur), Tammesoo, M.L. (M. L.), Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Scuteri, A. (Angelo), Tryggvadottir, L. (Laufey), Tyrer, J. (J.), Uda, M. (M.), van Dam, R.M. (R. M.), Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Weedon, M.N. (Michael), Wright, A.F. (Alan), Young, L. (L.), Zhai, G. (G.), Zhuang, W.V. (W. V.), Bierut, L.J. (L. J.), Boyd, H.A. (H. A.), Crisponi, L. (Laura), Demerath, E.W. (E. W.), Duijn, C.M. (Cornelia) van, Econs, M.J. (M. J.), Harris, T.B. (Tamara), Bierut, L.J. (Laura), Loos, R.J.F. (Ruth), Ridker, P.M. (Paul), Demerath, E.W. (Ellen), Streeten, E.A. (Elizabeth), Econs, M.J. (Michael), Thorsteinsdottir, U. (Unnur), Widen, E. (E.), Murabito, J. (Joanne), Ness, A.R. (Andrew), Spector, T.D. (Timothy), Crawford, S. (Steve), Crow, S. (Scott), Fichter, M.M. (M. M.), Halmi, K.A. (K. A.), Palotie, A. (Aarno), La Via, M. (Maria), Mitchell, J. (James), Strober, M. (Michael), Rotondo, A. (Alessandro), Woodside, D.B. (D Blake), Keel, P. (Pamela), Lilenfeld, L. (Lisa), Rivadeneira Ramirez, F. (Fernando), Magistretti, P. (Pierre), Montgomery, G.W. (G. W.), Hinney, A. (Anke), Kesselmeier, M. (M.), Jall, S. (S.), Volckmar, A.-L. (A. L.), Föcker, M. (M.), Antel, J. (J.), Heid, I.M. (Iris), Winkler, T.W. (Thomas W.), Grant, S.F.A. (S. F.A.), Guo, Y. (Yongli), Bergen, A.W. (Andrew), Grant, S.F.A. (Struan), Berrettini, W. (Wade), Hakonarson, H. (Hakon), Herpertz-Dahlmann, B. (B.), De Zwaan, M. (M.), Herzog, W. (W.), Ehrlich, S.M. (Stefan), Zipfel, S. (S.), Egberts, K. (Karin), Adan, R. (R.), Brandys, M. (M.), Elburg, A.A. (Annemarie) van, Boraska Perica, V. (V.), Müller, T.D., Tschöp, M.H. (M. H.), Zeggini, E. (Eleftheria), Bulik, C.M. (C. M.), Collier, D.A. (David), Scherag, A. (A.), Hebebrand, J. (J.), Tschop, M. (Matthias), Floyd, J. (Jamie), Thornton, L.M. (Laura), Huckins, L.M. (Laura M), Southam, L. (Lorraine), Rayner, N.W. (Nigel William), Tachmazidou, I. (Ioanna), Klump, K.L. (K. L.), Treasure, J. (Janet), Lewis, C.M. (Cathryn), Schmidt, U. (Ulrike), Tozzi, F. (Federica), Iezebrink, K. (Kirsty), Gorwood, P. (Philip), Kas, M.J.H. (Martien), Favaro, A. (Angela), Santonastaso, P. (Paolo), Fernández-Aranda, F. (Fernando), Gratacos, M. (Monica), Rybakowski, F. (Filip), Dmitrzak-Weglarz, M. (Monika), Kaprio, J. (Jaakko), Keski-Rahkonen, A. (Anna), Raevuori-Helkamaa, A. (Anu), Furth, E.F. (Eric) van, Slof-Op’t Landt, M.C.T. (Margarita C. T.), Hudson, J.I. (James I), Knudsen, G.P.S. (Gun Peggy S.), Monteleone, P. (Palmiero), Kaplan, A.S. (Allan S), Karwautz, A. (Andreas), Li, D. (Dong), Komaki, G. (Gen), Ando, T. (Tetsuya), Inoko, H. (Hidetoshi), Esko, T. (T.), Fischer, K. (Krista), Männik, K. (Katrin), Metspalu, A. (Andres), Baker, J.H. (Jessica H), Cone, R.D. (Roger D), Esko, T. (Tõnu), DeSocio, J.E. (Janiece E), Hilliard, C.E. (Christopher E), O’Toole, J.K. (Julie K), Pantel, J. (Jacques), Szatkiewicz, J.P. (Jin P), Taico, C. (Chrysecolla), Zerwas, S. (Stephanie), Trace, S.E. (Sara E), Davis, O.S.P. (Oliver S.), Helder, S. (Sietske), Bühren, K. (Katharina), Burghardt, R. (Roland), Imgart, H. (Hartmut), Scherag, A. (Andre), Boni, C. (Claudette), Ramoz, N. (Nicolas), Versini, A. (Audrey), Danner, U.N. (Unna N), de Kove, C. (Carolien), Hendriks, J. (Judith), Koeleman, B.P.C. (Bobby P. C.), Ophoff, R.A. (Roel), Strengman, E. (Eric), Bruson, A. (Alice), Clementi, M. (Maurizio), Degortes, D. (Daniela), Forzan, M. (Monica), Tenconi, E. (Elena), Docampo, E. (Elisa), Jiménez-Murcia, G.E.S. (Geòrgia Escaramí Susana), Lissowska, J. (Jolanta), Rajewski, A. (Andrzej), Szeszenia-Dabrowska, N. (Neonila), Slopien, A. (Agnieszka), Hauser, J. (J.), Karhunen, L. (Leila), Meulenbelt, I. (Ingrid), Slagboom, P.E. (Eline), Tortorella, A. (Alfonso), Maj, M. (Mario), Dedoussis, G.V. (George), Dedoussis, G.V. (G. V.), Koeleman, B.P.C. (Bobby), Gonidakis, F. (Fragiskos), Tziouvas, K. (Konstantinos), Tsitsika, A. (Artemis), Papezova, H. (Hana), Slachtova, L. (Lenka), Martaskova, D. (Debora), Kennedy, J.L., Levitan, R.D. (Robert D), Yilmaz, Z. (Zeynep), Huemer, J. (Julia), Koubek, D. (Doris), Merl, E. (Elisabeth), Wagner, G. (Gudrun), Lichtenstein, P. (Paul), Breen, G. (Gerome), Cohen-Woods, S. (Sarah), Farmer, A.E. (Anne E), Mcguffin, P. (Peter), Cichon, S. (Sven), Giegling, I. (Ina), Herms, S. (Stefan), Rujescu, D. (Dan), Schreiber, S. (Stefan), Wichmann, H.E. (Heinz Erich), Sladek, R. (Rob), Gambaro, G. (Giovanni), Soranzo, N. (Nicole), Julia, A. (Antonio), Marsal, S. (Sara), Rabionet, R. (Raquel), Gaborieau, V. (Valerie), Dick, D.M. (Danielle), Palotie, A. (A.), Ripatti, S. (Samuli), Widen, E., Espeseth, T. (Thomas), Lundervold, A.J. (Astri), Reinvang, I. (Ivar), Steen, V.M. (Vidar), Le Hellard, S. (Stephanie), Mattingsdal, M. (Morten), Ntalla, I. (Ioanna), Bencko, V. (Vladimir), Foretova, L. (Lenka), Janout, V. (Vladimir), Navratilova, M. (Marie), Pinto, D. (Dalila), Scherer, S.W. (Stephen W), Carlberg, L. (Laura), Schosser, A. (Alexandra), Alfredsson, L. (Lars), Pinto, D. (Duane), Scherer, S.W. (Stephen), Padyukov, L. (Leonid), Finan, C. (Chris), Kalsi, G. (Gursharan), Roberts, M. (Marion), Logan, D.W. (Darren W), Peltonen, L. (Leena Johanna), Ritchie, G.R.S. (Graham R.S.), Barrett, J.C. (Jeffrey), Estivill, X. (Xavier), Sullivan, P.F. (Patrick), Anderson, C.A. (Carl A), McGinnis, R. (Ralph), Sambrook, J. (Jennifer), Stephens, J. (Jonathan), Ouwehand, W.H. (Willem), McArdle, P.F. (P. F.), Ring, S.M. (Susan), Strachan, D.P. (David), Alexander, G. (Graeme), Conlon, P.J. (Peter J), Dominiczak, A. (Anna), Duncanson, A. (Audrey), Padyukov, L. (L.), Langford, C. (Cordelia), Lord, G. (Graham), Conlon, P. (Peter), Sandford, R. (Richard), Sheerin, N. (Neil), Vannberg, F.O. (Frederik O), Blackburn, H. (Hannah), Maxwell, A.P. (A.), Edkins, T. (Ted), Gillman, M.W. (Matthew W.), Gray, E. (Emma), Hunt, S.E. (Sarah E), Nengut, S.-G. (Suna-Gumuscu), Potter, S.C. (Simon), Rich, S.S. (Stephen), Simpkin, D. (Douglas), Whittaker, P. (Pamela), Ang, W.Q. (Wei), Atalay, M. (Mustafa), Beijsterveldt, C.E.M. (Toos) van, Bergen, N. (N.), Benke, K. (K.), Berry, D. (Diane), Boomsma, D.I. (Dorret), Bradfield, J.P. (Jonathan), Charoen, P. (Pimphen), Coin, L. (Lachlan), Cooper, C. (C.), Cousminer, D.L. (Diana), Das, S. (Shikta), Elliott, P. (P.), Evans, D.M. (D. M.), Feenstra, B. (B.), Flexeder, C. (Claudia), Frayling, T.M. (Timothy), Freathy, R.M. (Rachel), Gaillard, R. (R.), Geller, F. (Frank), Groen-Blokhuis, M. (Maria), Goh, L.K. (L. K.), Guxens Junyent, M. (Mònica), Hattersley, A.T. (Andrew), Haworth, C.M.A. (Claire M.), Hadley, D. (D.), Heinrich, J. (J.), Hirschhorn, J.N. (Joel), Hocher, B. (Berthold), Holloway, J.W. (J. W.), Holst, J.J., Hottenga, J.J. (Jouke Jan), Horikoshi, M. (Momoko), Huikari, V. (Ville), Hypponen, E. (E.), Iñiguez, C. (C.), Jaddoe, V.W. (V. W.), Jarvelin, M.R. (M. R.), Kaakinen, M. (M.), Kilpeläinen, T.O. (Tuomas), Hypponen, E. (Elina), Kowgier, M. (Matthew), Lakka, T.A. (Timo), Cooper, C. (Charles), Lange, L.A. (Leslie), Lawlor, D.A. (D. A.), Lehtimäki, T. (Terho), Lewin, A. (Alex), Elliott, P. (Paul), Lindi, V. (Virpi), Maggi, R. (Reedik), Feenstra, B. (Bjarke), McCarthy, M.I. (M. I.), Melbye, M. (Mads), Middeldorp, C.M. (Christel), Millwood, I.Y. (Iona), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (D. O.), Murray, J.C. (Jeffrey), Nivard, M. (Michel), Nohr, C. (Christian), Oken, E. (Emily), Ong, K.K. (K. K.), O'Reilly, P.F. (P. F.), Palmer, C. (Cameron), Panoutsopoulou, K. (K.), Pararajasingham, J. (Jennifer), Pearson, E.R. (E. R.), Pennell, C.E. (Craig), Power, C. (Christopher), Price, T.S. (Thomas), Prokopenko, I. (Inga), Raitakari, O.T. (O. T.), Rodriguez, A. (A.), Salem, R.M. (Rany), Saw, S.M. (S. M.), Sebert, S. (S.), Siitonen, N. (Niina), Jaddoe, V.W.V. (Vincent), Sørensen, T.I.A. (Thorkild), Sovio, U. (Ulla), Lawlor, D.A. (Debbie), Sunyer, J. (J.), Taal, H.R. (Rob), Teo, Y.Y. (Y. Y.), Thiering, E. (Elisabeth), Tiesler, C. (C.), Timpson, N.J. (Nicholas), Uitterlinden, A.G. (André), Valcárcel, B. (Beatriz), Teo, Y.Y. (Yik Ying), White, S.J. (Stefan), Willemsen, G.A.H.M. (Gonneke), Wilson, J.F. (J. F.), Yaghootkar, H. (H.), Elks, C.E. (Cathy), Perry, J.R. (J. R.), Sulem, P. (Patrick), Chasman, D.I. (Daniel), Franceschini, N. (Nora), He, C. (C.), Lunetta, K.L. (Kathryn), Visser, J.A. (Jenny), Byrne, E.M. (E. M.), Gudbjartsson, D.F. (Daniel), Koller, D.L. (Daniel), Kutalik, Z. (Zoltán), Lin, P. (P.), Mangino, M. (Massimo), Byrne, E.M. (Enda), Smith, A.V. (Albert), Stolk, L. (Lisette), Wingerden, S. (Sophie) van, Zhao, J.H. (J. H.), Albrecht, E. (Eva), Corre, T. (Tanguy), Ingelsson, E. (Erik), Hayward, C. (Caroline), Magnusson, P.K. (Patrik), Smith, A.V. (Davey), Chanock, S.J. (Stephen), Warrington, M. (M.), Zgaga, L. (L.), Alavere, H. (Helene), Amin, N. (Najaf), Aspelund, T. (T.), Ulivi, S. (Shelia), Sunyer, J. (Jordi), Berenson, G. (Gerald), Bergmann, S.M. (Sven), Boerwinkle, E. (E.), Buring, J.E. (Julie), Busonero, F. (F.), Barroso, I.E. (Inês), Chanock, S.J. (S. J.), Warrington, N.M. (Nicole), Couper, D.J. (David), Coviello, A.D. (Andrea), Busonero, F., Faire, U. (Ulf) de, de Geus, E.J. (E. J.), Deloukas, P. (Panagiotis), Döring, A. (Angela), Davey Smith, G. (G.), Adamo, P. (Pio) d', Eiriksdottir, G. (Gudny), Geus, E.J.C. (Eco) de, Hagen, K. (Knut), Ferrucci, L. (L.), Folsom, A.R. (A. R.), Foroud, T. (T.), Garcia, M.E. (M.), Gasparini, P. (P.), Gieger, C. (Christian), Gudnason, V. (V.), Folsom, A.R. (Aaron), Hankinson, S.E. (S. E.), Ferreli, L. (Liana), Gasparini, P. (Paolo), Hernandez, D.G. (Dena), Hofman, A. (Albert), Hu, F.B. (F. B.), Illig, T. (T.), Jarvelin, M.-R. (Marjo-Riitta), Johnson, A.D. (Andrew), Karasik, D. (David), Khaw, K.T. (K. T.), Kiel, D.P. (Douglas P.), Kolcic, I. (Ivana), Kraft, P. (Peter), Launer, L.J. (Lenore), Laven, J.S. (J. S.), Li, S. (S.), Liu, J. (J.), Levy, D. (D.), Martin, N.G. (N. G.), Aspelund, T. (Thor), Nalls, M.A. (Michael), Navarro, P. (Pau), Nelis, M. (M.), Ness, A.R. (A. R.), Boerwinkle, E.A. (Eric), Oostra, B.A. (Ben), Peacock, M. (M.), Pare, G. (Guillame), Parker, A.N. (Alex), Pedersen, N.L. (Nancy), Cornelis, M. (Marilyn), Polasek, O. (Ozren), Plump, A.S. (A. S.), Peacock, M. (Munro), Porcu, E. (Eleonora), Rafnar, T. (Thorunn), Rice, J.P. (John), Rivadeneira, F. (F.), Sala, C. (Cinzia), Salomaa, V. (Veikko), Sanna, S. (Serena), Schlessinger, D. (D.), Scuteri, A. (A.), Segrè, A.V. (Ayellet), Foroud, T. (Tatiana), Srinivasan, S.R. (Sathanur), Tammesoo, M.L. (M. L.), Tikkanen, E. (Emmi), Toniolo, D. (Daniela), Scuteri, A. (Angelo), Tryggvadottir, L. (Laufey), Tyrer, J. (J.), Uda, M. (M.), van Dam, R.M. (R. M.), Meurs, J.B.J. (Joyce) van, Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Weedon, M.N. (Michael), Wright, A.F. (Alan), Young, L. (L.), Zhai, G. (G.), Zhuang, W.V. (W. V.), Bierut, L.J. (L. J.), Boyd, H.A. (H. A.), Crisponi, L. (Laura), Demerath, E.W. (E. W.), Duijn, C.M. (Cornelia) van, Econs, M.J. (M. J.), Harris, T.B. (Tamara), Bierut, L.J. (Laura), Loos, R.J.F. (Ruth), Ridker, P.M. (Paul), Demerath, E.W. (Ellen), Streeten, E.A. (Elizabeth), Econs, M.J. (Michael), Thorsteinsdottir, U. (Unnur), Widen, E. (E.), Murabito, J. (Joanne), Ness, A.R. (Andrew), Spector, T.D. (Timothy), Crawford, S. (Steve), Crow, S. (Scott), Fichter, M.M. (M. M.), Halmi, K.A. (K. A.), Palotie, A. (Aarno), La Via, M. (Maria), Mitchell, J. (James), Strober, M. (Michael), Rotondo, A. (Alessandro), Woodside, D.B. (D Blake), Keel, P. (Pamela), Lilenfeld, L. (Lisa), Rivadeneira Ramirez, F. (Fernando), Magistretti, P. (Pierre), and Montgomery, G.W. (G. W.)
Abstract: The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patients have reduced rates of overweight and obesity. As such, loci involved in body weight regulation may also be relevant for AN and vice versa. Our primary analysis comprised a cross-trait analysis of the 1000 single-nucleotide polymorphisms (SNPs) with the lowest P-values in a genome-wide association meta-analysis (GWAMA) of AN (GCAN) for evidence of association in the largest published GWAMA for BMI (GIANT). Subsequently we performed sex-stratified analyses for these 1000 SNPs. Functional ex vivo studies on four genes ensued. Lastly, a look-up of GWAMA-derived BMI-related loci was performed in the AN GWAMA. We detected significant associations (P-values <5 × 10-5, Bonferroni-corrected P<0.05) for nine SNP alleles at three independent loci. Interestingly, all AN susceptibility alleles were consistently associated with increased BMI. None of the genes (chr. 10: CTBP2, chr. 19: CCNE1, chr. 2: CARF and NBEAL1; the latter is a region with high linkage disequilibrium) nearest to these SNPs has previously been associated with AN or obesity. Sex-stratified analyses revealed that the strongest BMI signal originated predominantly from females (chr. 10 rs1561589; Poverall: 2.47 × 10-06/Pfemales: 3.45 × 10-07/Pmales: 0.043). Functional ex vivo studies in mice revealed reduced hypothalamic expression of Ctbp2 and Nbeal1 after fasting. Hypothalamic expression of Ctbp2 was increased in diet-induced obese (DIO) mice as compared with age-matched lean controls. We observed no evidence for associations for the look-up of BMI-related loci in the AN GWAMA. A cross-trait analysis of AN and BMI loci revealed variants at three chromosomal loci with potential joint impact. The chromosome 10 locus is particularly promising given that the associa
Published: 2017
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4. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Author: Justice, A.E. (Anne), Winkler, T.W. (Thomas W.), Feitosa, M.F., Graff, M.J. (Maud J.L.), Fisher, V.A. (Virginia A.), Young, K. (Kristin), Barata, L. (Llilda), Deng, X. (Xuan), Czajkowski, J. (Jacek), Hadley, D. (David), Ngwa, J.S. (Julius S.), Ahluwalia, T.S. (Tarunveer Singh), Chu, A.Y. (Audrey Y), Heard-Costa, N.L. (Nancy), Lim, E. (Elise), Perez, J. (Jeremiah), Eicher, J.D. (John D.), Kutalik, Z. (Zoltán), Xue, L. (Luting), Mahajan, A. (Anubha), Renström, F. (Frida), Wu, J.M.W. (Joseph M. W.), Qi, Q., Ahmad, S. (Shafqat), Alfred, T. (Tamuno), Amin, N. (Najaf), Bielak, L.F. (Lawrence F.), Bonnefond, A. (Amélie), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Chittani, M. (Martina), Coggeshall, S. (Scott), Corre, T. (Tanguy), Direk, N. (Nese), Eriksson, J. (Joel), Fischer, K. (Krista), Gorski, M. (Mathias), Harder, M.N. (Marie Neergaard), Horikoshi, M. (Momoko), Huang, T. (Tao), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Justesen, J.M. (Johanne M.), Kanoni, S. (Stavroula), Kinnunen, L. (Leena), Kleber, M.E. (Marcus), Komulainen, P. (Pirjo), Kumari, M. (Meena), Lim, U. (Unhee), Luan, J., Lyytikäinen, L.-P. (Leo-Pekka), Mangino, M. (Massimo), Manichaikul, A. (Ani), Marten, J. (Jonathan), Middelberg, R.P.S. (Rita), Müller-Nurasyid, M. (Martina), Navarro, P. (Pau), Perusse, L. (Louis), Pervjakova, N. (Natalia), Sarti, C. (Cinzia), Smith, A.V. (Albert), Smith, J.A. (Jennifer A), Stanča'kova, A. (Alena), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather M.), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Trompet, S. (Stella), Van Der Laan, S.W. (Sander W.), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vedantam, S. (Sailaja), Verweij, N. (Niek), Vink, J.M. (Jacqueline), Vitart, V. (Veronique), Wu, Y. (Ying), Yengo, L. (Loic), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zimmermann, M.E. (Martina E.), Zubair, N. (Niha), Abecasis, G.R. (Gonçalo), Adair, L.S. (Linda S.), Afaq, S. (Saima), Afzal, U. (Uzma), Bakker, S.J.L. (Stephan), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S. (Sven), Biffar, R. (Reiner), Blangero, J. (John), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bottinger, E.P. (Erwin), Braga, D. (Daniele), Buckley, B.M. (Brendan M.), Buyske, S. (Steven), Campbell, H. (Harry), Chambers, J.C. (John C.), Collins, F.S. (Francis), Curran, J.E. (Joanne), Borst, G.J. (Gert) de, Craen, A.J. (Anton) de, Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Delgado, G., Ruijter, H.M. (Hester ) den, Eiriksdottir, G. (Gudny), Eriksson, A.L. (Anna L.), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Ford, I. (Ian), Forrester, T. (Terrence), Gertow, K. (Karl), Gigante, B. (Bruna), Glorioso, N. (Nicola), Gong, J. (Jian), Grallert, H. (Harald), Grammer, T.B. (Tanja), Grarup, N. (Niels), Haitjema, S. (Saskia), Hallmans, G. (Göran), Hamsten, A. (Anders), Hansen, T. (Torben), Harris, T.B. (Tamara), Hartman, C.A. (C.), Hassinen, M. (Maija), Hastie, N. (Nick), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J., Hollensted, M. (Mette), Holmen, O.L. (Oddgeir L.), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Hung, J. (Joseph), Hutri-Kähönen, N. (Nina), Ingelsson, E. (Erik), James, A. (Alan), Jansson, J.-O. (John-Olov), Jarvelin, M.-R. (Marjo-Riitta), Jhun, M.A. (Min A.), Jørgensen, M.E. (Marit E.), Juonala, M. (Markus), Kähönen, M. (Mika), Karlsson, M. (Magnus), Koistinen, H.A. (Heikki A.), Kolcic, I. (Ivana), Kolovou, G. (Genovefa), Kooperberg, C. (Charles), Krämer, B.K. (Bernhard), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Leander, K. (Karin), Lee, N.R. (Nanette R.), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Linneberg, A. (Allan), Lobbens, S. (Stéphane), Loh, M. (Marie), Lorentzon, M. (Mattias), Luben, R. (Robert), Lubke, G.H. (Gitta), Ludolph-Donislawski, A. (Anja), Lupoli, S. (Sara), Madden, P.A. (Pamela), Männikkö, R. (Reija), Marques-Vidal, P. (Pedro), Martin, N.G. (Nicholas), McKenzie, C.A. (Colin), McKnight, B. (Barbara), Mellström, D. (Dan), Menni, C. (Cristina), Montgomery, G.W. (Grant W.), Musk, A.W. (Arthur), Narisu, N. (Narisu), Nauck, M. (Matthias), Nolte, I.M. (Ilja), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Peyser, P.A. (Patricia A.), Pisinger, C. (Charlotta), Porteous, D.J. (David J.), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C. (D. C.), Rasmussen-Torvik, L.J. (Laura), Rawal, R. (Rajesh), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Rose, L.M. (Lynda M.), Bien, S.A. (Stephanie A.), Rudan, I. (Igor), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Sattar, N. (Naveed), Savonen, K. (Kai), Schlessinger, D. (David), Scholtens, S. (Salome), Schurmann, C. (Claudia), Scott, R.A. (Robert), Sennblad, B. (Bengt), Siemelink, M.A. (Marten A.), Silbernagel, G. (Günther), Slagboom, P.E. (Eline), Snieder, H. (Harold), Staessen, J.A. (Jan A.), Stott, D.J. (David. J.), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Taylor, K.D. (Kent), Tayo, B. (Bamidele), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Vandenput, L. (Liesbeth), Vohl, M.-C. (Marie-Claude), Völzke, H. (Henry), Vonk, J.M. (Judith), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Westendorp, R.G.J. (Rudi), Wild, S.H. (Sarah), Willemsen, G., Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zhao, W. (Wei), Zillikens, M.C. (Carola), Baldassarre, D. (Damiano), Balkau, B. (Beverley), Bandinelli, S. (Stefania), Böger, C.A. (Carsten), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Bruinenberg, M. (M.), Chasman, D.I. (Daniel), Ida Chen, Y.-D. (Yii-Der), Chines, P.S. (Peter), Cooper, R.S. (Richard S.), Cucca, F. (Francesco), Cusi, D. (Daniele), Faire, U. (Ulf) de, Ferrucci, L. (Luigi), Franks, P.W. (Paul), Froguel, P. (Philippe), Gordon-Larsen, P. (Penny), Grabe, H.J. (Hans Jörgen), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Hayward, C. (Caroline), Hveem, K. (Kristian), Johnson, A.D. (Andrew D.), Jukema, J.W. (Jan Wouter), Kardia, S.L.R. (Sharon), Kivimaki, M. (Mika), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Le Marchand, L. (Loic), März, W. (Winfried), McCarthy, M.I. (Mark), Metspalu, A. (Andres), Morris, A.P. (Andrew), Ohlsson, C. (Claes), Palmer, L.J. (Lyle J.), Pasterkamp, G. (Gerard), Pedersen, O. (Oluf), Peters, A. (Annette), Peters, U. (Ulrike), Polasek, O. (Ozren), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Rauramaa, R. (Rainer), Smith, B.H. (Blair), Sørensen, T.I.A. (Thorkild), Strauch, K. (Konstantin), Tiemeier, H.W. (Henning), Tremoli, E. (Elena), Van Der Harst, P. (Pim), Vestergaard, H. (Henrik), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Weir, D.R. (David), Whitfield, J. (John), Wilson, J.F. (James F.), Tyrrell, A.W.R., Frayling, T.M. (Timothy M.), Barroso, I.E. (Inês), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Hirschhorn, J.N. (Joel), Hunter, D.J. (David J.), Spector, T.D. (Timothy), Strachan, D.P. (David), Duijn, C.M. (Cornelia) van, Heid, I.M. (Iris), Mohlke, K.L. (Karen), Marchini, J. (Jonathan), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Liu, C.-T. (Ching-Ti), Borecki, I.B. (Ingrid), North, K.E. (Kari), Cupples, L.A. (Adrienne), Justice, A.E. (Anne), Winkler, T.W. (Thomas W.), Feitosa, M.F., Graff, M.J. (Maud J.L.), Fisher, V.A. (Virginia A.), Young, K. (Kristin), Barata, L. (Llilda), Deng, X. (Xuan), Czajkowski, J. (Jacek), Hadley, D. (David), Ngwa, J.S. (Julius S.), Ahluwalia, T.S. (Tarunveer Singh), Chu, A.Y. (Audrey Y), Heard-Costa, N.L. (Nancy), Lim, E. (Elise), Perez, J. (Jeremiah), Eicher, J.D. (John D.), Kutalik, Z. (Zoltán), Xue, L. (Luting), Mahajan, A. (Anubha), Renström, F. (Frida), Wu, J.M.W. (Joseph M. W.), Qi, Q., Ahmad, S. (Shafqat), Alfred, T. (Tamuno), Amin, N. (Najaf), Bielak, L.F. (Lawrence F.), Bonnefond, A. (Amélie), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Chittani, M. (Martina), Coggeshall, S. (Scott), Corre, T. (Tanguy), Direk, N. (Nese), Eriksson, J. (Joel), Fischer, K. (Krista), Gorski, M. (Mathias), Harder, M.N. (Marie Neergaard), Horikoshi, M. (Momoko), Huang, T. (Tao), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Justesen, J.M. (Johanne M.), Kanoni, S. (Stavroula), Kinnunen, L. (Leena), Kleber, M.E. (Marcus), Komulainen, P. (Pirjo), Kumari, M. (Meena), Lim, U. (Unhee), Luan, J., Lyytikäinen, L.-P. (Leo-Pekka), Mangino, M. (Massimo), Manichaikul, A. (Ani), Marten, J. (Jonathan), Middelberg, R.P.S. (Rita), Müller-Nurasyid, M. (Martina), Navarro, P. (Pau), Perusse, L. (Louis), Pervjakova, N. (Natalia), Sarti, C. (Cinzia), Smith, A.V. (Albert), Smith, J.A. (Jennifer A), Stanča'kova, A. (Alena), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather M.), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Trompet, S. (Stella), Van Der Laan, S.W. (Sander W.), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vedantam, S. (Sailaja), Verweij, N. (Niek), Vink, J.M. (Jacqueline), Vitart, V. (Veronique), Wu, Y. (Ying), Yengo, L. (Loic), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zimmermann, M.E. (Martina E.), Zubair, N. (Niha), Abecasis, G.R. (Gonçalo), Adair, L.S. (Linda S.), Afaq, S. (Saima), Afzal, U. (Uzma), Bakker, S.J.L. (Stephan), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S. (Sven), Biffar, R. (Reiner), Blangero, J. (John), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bottinger, E.P. (Erwin), Braga, D. (Daniele), Buckley, B.M. (Brendan M.), Buyske, S. (Steven), Campbell, H. (Harry), Chambers, J.C. (John C.), Collins, F.S. (Francis), Curran, J.E. (Joanne), Borst, G.J. (Gert) de, Craen, A.J. (Anton) de, Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Delgado, G., Ruijter, H.M. (Hester ) den, Eiriksdottir, G. (Gudny), Eriksson, A.L. (Anna L.), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Ford, I. (Ian), Forrester, T. (Terrence), Gertow, K. (Karl), Gigante, B. (Bruna), Glorioso, N. (Nicola), Gong, J. (Jian), Grallert, H. (Harald), Grammer, T.B. (Tanja), Grarup, N. (Niels), Haitjema, S. (Saskia), Hallmans, G. (Göran), Hamsten, A. (Anders), Hansen, T. (Torben), Harris, T.B. (Tamara), Hartman, C.A. (C.), Hassinen, M. (Maija), Hastie, N. (Nick), Heath, A.C. (Andrew), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J., Hollensted, M. (Mette), Holmen, O.L. (Oddgeir L.), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Hung, J. (Joseph), Hutri-Kähönen, N. (Nina), Ingelsson, E. (Erik), James, A. (Alan), Jansson, J.-O. (John-Olov), Jarvelin, M.-R. (Marjo-Riitta), Jhun, M.A. (Min A.), Jørgensen, M.E. (Marit E.), Juonala, M. (Markus), Kähönen, M. (Mika), Karlsson, M. (Magnus), Koistinen, H.A. (Heikki A.), Kolcic, I. (Ivana), Kolovou, G. (Genovefa), Kooperberg, C. (Charles), Krämer, B.K. (Bernhard), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Leander, K. (Karin), Lee, N.R. (Nanette R.), Kao, W.H.L. (Wen), Lindgren, C.M. (Cecilia M.), Linneberg, A. (Allan), Lobbens, S. (Stéphane), Loh, M. (Marie), Lorentzon, M. (Mattias), Luben, R. (Robert), Lubke, G.H. (Gitta), Ludolph-Donislawski, A. (Anja), Lupoli, S. (Sara), Madden, P.A. (Pamela), Männikkö, R. (Reija), Marques-Vidal, P. (Pedro), Martin, N.G. (Nicholas), McKenzie, C.A. (Colin), McKnight, B. (Barbara), Mellström, D. (Dan), Menni, C. (Cristina), Montgomery, G.W. (Grant W.), Musk, A.W. (Arthur), Narisu, N. (Narisu), Nauck, M. (Matthias), Nolte, I.M. (Ilja), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Peyser, P.A. (Patricia A.), Pisinger, C. (Charlotta), Porteous, D.J. (David J.), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C. (D. C.), Rasmussen-Torvik, L.J. (Laura), Rawal, R. (Rajesh), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Rose, L.M. (Lynda M.), Bien, S.A. (Stephanie A.), Rudan, I. (Igor), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Sattar, N. (Naveed), Savonen, K. (Kai), Schlessinger, D. (David), Scholtens, S. (Salome), Schurmann, C. (Claudia), Scott, R.A. (Robert), Sennblad, B. (Bengt), Siemelink, M.A. (Marten A.), Silbernagel, G. (Günther), Slagboom, P.E. (Eline), Snieder, H. (Harold), Staessen, J.A. (Jan A.), Stott, D.J. (David. J.), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Taylor, K.D. (Kent), Tayo, B. (Bamidele), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Vandenput, L. (Liesbeth), Vohl, M.-C. (Marie-Claude), Völzke, H. (Henry), Vonk, J.M. (Judith), Waeber, G. (Gérard), Waldenberger, M. (Melanie), Westendorp, R.G.J. (Rudi), Wild, S.H. (Sarah), Willemsen, G., Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zhao, W. (Wei), Zillikens, M.C. (Carola), Baldassarre, D. (Damiano), Balkau, B. (Beverley), Bandinelli, S. (Stefania), Böger, C.A. (Carsten), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Bruinenberg, M. (M.), Chasman, D.I. (Daniel), Ida Chen, Y.-D. (Yii-Der), Chines, P.S. (Peter), Cooper, R.S. (Richard S.), Cucca, F. (Francesco), Cusi, D. (Daniele), Faire, U. (Ulf) de, Ferrucci, L. (Luigi), Franks, P.W. (Paul), Froguel, P. (Philippe), Gordon-Larsen, P. (Penny), Grabe, H.J. (Hans Jörgen), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Hayward, C. (Caroline), Hveem, K. (Kristian), Johnson, A.D. (Andrew D.), Jukema, J.W. (Jan Wouter), Kardia, S.L.R. (Sharon), Kivimaki, M. (Mika), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Le Marchand, L. (Loic), März, W. (Winfried), McCarthy, M.I. (Mark), Metspalu, A. (Andres), Morris, A.P. (Andrew), Ohlsson, C. (Claes), Palmer, L.J. (Lyle J.), Pasterkamp, G. (Gerard), Pedersen, O. (Oluf), Peters, A. (Annette), Peters, U. (Ulrike), Polasek, O. (Ozren), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Rauramaa, R. (Rainer), Smith, B.H. (Blair), Sørensen, T.I.A. (Thorkild), Strauch, K. (Konstantin), Tiemeier, H.W. (Henning), Tremoli, E. (Elena), Van Der Harst, P. (Pim), Vestergaard, H. (Henrik), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Weir, D.R. (David), Whitfield, J. (John), Wilson, J.F. (James F.), Tyrrell, A.W.R., Frayling, T.M. (Timothy M.), Barroso, I.E. (Inês), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Hirschhorn, J.N. (Joel), Hunter, D.J. (David J.), Spector, T.D. (Timothy), Strachan, D.P. (David), Duijn, C.M. (Cornelia) van, Heid, I.M. (Iris), Mohlke, K.L. (Karen), Marchini, J. (Jonathan), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Liu, C.-T. (Ching-Ti), Borecki, I.B. (Ingrid), North, K.E. (Kari), and Cupples, L.A. (Adrienne)
Abstract: Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting
Published: 2017
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5. Rare and low-frequency coding variants alter human adult height

Author: Marouli, E. (Eirini), Graff, M.J. (Maud J.L.), Medina-Gomez, C. (Carolina), Lo, K.S., Wood, A.R. (Andrew), Kjaer, T.R. (Troels R.), Fine, R.S. (Rebecca S.), Lu, Y. (Yingchang), Schurmann, C. (Claudia), Highland, H. (Heather), Rüeger, S. (Sina), Thorleifsson, G. (Gudmar), Justice, A.E. (Anne), Lamparter, D. (David), Stirrups, K. (Kathy), Turcot, V. (Valérie), Young, K.L. (Kristin L.), Winkler, T.W. (Thomas W.), Esko, T. (Tõnu), Karaderi, T. (Tugce), Locke, A. (Adam), Masca, N.G.D. (Nicholas G.D.), Ng, M.C.Y. (Maggie C.Y.), Mudgal, P. (Poorva), Rivas, M.A. (Manuel), Vedantam, S. (Sailaja), Mahajan, A. (Anubha), Guo, X. (Xiuqing), Abecasis, G.R. (Gonçalo), Aben, K.K.H. (Katja), Adair, L.S. (Linda), Alam, D.S. (Dewan S.), Albrecht, E. (Eva), Allin, K.H. (Kristine H), Allison, M.A. (Matthew), Amouyel, P. (Philippe), Appel, E.V. (Emil V.), Arveiler, D. (Dominique), Asselbergs, F.W. (Folkert), Auer, P. (Paul), Balkau, B. (Beverley), Banas, B. (Bernhard), Bang, L.E. (Lia E.), Benn, M. (Marianne), Bergmann, S. (Sven), Bielak, L.F. (Lawrence F.), Blüher, M. (Matthias), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Böger, C.A. (Carsten), Bonnycastle, L.L. (Lori), Bork-Jensen, J. (Jette), Bots, M.L. (Michiel), Bottinger, E.P. (Erwin), Bowden, D.W. (Donald), Brandslund, I. (Ivan), Breen, G. (Gerome), Brilliant, M.H. (Murray H.), Broer, L. (Linda), Burt, A.D. (Alastair), Butterworth, A.S. (Adam), Carey, D.J. (David J.), Caulfield, M. (Mark), Chambers, J.C. (John), Chasman, D.I. (Daniel), Chen, Y.-D.I. (Yii-Der Ida), Chowdhury, R. (Rajiv), Christensen, C. (Cramer), Chu, A.Y. (Audrey), Cocca, M. (Massimiliano), Collins, F.S. (Francis), Cook, J.P. (James P.), Corley, J. (Janie), Galbany, J.C. (Jordi Corominas), Cox, A.J. (Amanda J.), Cuellar-Partida, G. (Gabriel), Danesh, J. (John), Davies, G. (Gail), Bakker, P.I.W. (Paul) de, Borst, G.J. (Gert) de, De Denus, S. (Simon), De Groot, M.C.H. (Mark C.H.), Mutsert, R. (Reneé) de, Deary, I.J. (Ian), Dedoussis, G.V. (George), Demerath, E.W. (Ellen), Hollander, A.I. (Anneke), Dennis, J. (Joe), Angelantonio, E. (Emanuele) di, Drenos, F. (Fotios), Du, M. (Mengmeng), Dunning, A.M. (Alison M.), Easton, D.F. (Douglas), Ebeling, T. (Tapani), Edwards, T.L. (Todd L.), Ellinor, P.T. (Patrick), Elliott, P. (Paul), Evangelou, E. (Evangelos), Farmaki, A.-E. (Aliki-Eleni), Faul, J.D. (Jessica D.), Feitosa, M.F. (Mary Furlan), Feng, S. (Shuang), Ferrannini, E. (Ele), Ferrario, M.M. (Marco M.), Ferrieres, J. (Jean), Florez, J.C. (Jose), Ford, I., Fornage, M. (Myriam), Franks, P.W. (Paul), Frikke-Schmidt, R. (Ruth), Galesloot, T.E. (Tessel), Gan, W. (Wei), Gandin, I. (Ilaria), Gasparini, P. (Paolo), Giedraitis, V. (Vilmantas), Giri, A. (Ayush), Girotto, S., Gordon, S.D. (Scott D.), Gordon-Larsen, P. (Penny), Gorski, M. (Mathias), Grarup, N. (Niels), Grove, M.L. (Megan), Gudnason, V. (Vilmundur), Gustafsson, S. (Stefan), Hansen, T. (T.), Harris, K.M. (Kathleen Mullan), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayward, C. (Caroline), He, L. (Liang), Heid, I.M. (Iris), Heikkilä, K. (Kauko), Helgeland, Ø. (Øyvind), Hernesniemi, J. (Jussi), Hewit, A.W. (Alex), Hocking, L.J. (Lynne), Hollensted, M. (Mette), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Howson, J.M.M. (Joanna M.M.), Hoyng, C.B. (Carel), Huang, P.L. (Paul L.), Hveem, K. (Kristian), Ikram, M.K. (Kamran), Ingelsson, E. (Erik), Jackson, A.U. (Anne), Jansson, J.-H. (Jan-Håkan), Jarvik, G.P. (Gail), Jensen, G.B. (Gorm B.), Jhun, M.A. (Min A.), Jia, Y. (Yucheng), Jiang, X. (Xuejuan), Johansson, S. (Stefan), Jørgensen, M.E. (Marit E.), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jukema, J.W. (Jan Wouter), Kahali, B. (Bratati), Kahn, R. (René), Kähönen, M. (Mika), Kamstrup, P.R. (Pia R.), Kanoni, S. (Stavroula), Kaprio, J. (Jaakko), Karaleftheri, M. (Maria), Kardia, S.L.R. (Sharon L.R.), Karpe, F. (Fredrik), Kee, F. (Frank), Keeman, J.N., Kiemeney, L.A.L.M. (Bart), Kitajima, H. (Hidetoshi), Kluivers, K.B. (Kirsten B.), Kocher, T., Komulainen, P. (Pirjo), Kontto, J. (Jukka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kriebel, J. (Jennifer), Kuivaniemi, H. (Helena), Küry, S. (Sébastien), Kuusisto, J. (Johanna), La Bianca, M. (Martina), Laakso, M. (Markku), Lakka, T.A. (Timo), Lange, E.M. (Ethan), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Larson, E.B. (Eric B.), Lee, I.-T. (I-Te), Lehtimäki, T. (Terho), Lewis, C.E. (Cora E.), Li, H. (Huaixing), Li, J. (Jin), Li-Gao, R. (Ruifang), Lin, H. (Honghuang), Lin, L.-A. (Li-An), Lin, X. (Xu), Kao, W.H.L. (Wen), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y. (Yeheng), Liu, Y. (YongMei), Lophatananon, A. (Artitaya), Luan, J. (Jian'An), Lubitz, S.A. (Steven), Lyytikäinen, L.-P. (Leo-Pekka), Mackey, D.A. (David A.), Madden, P.A. (Pamela), Manning, A.K. (Alisa), Männistö, S. (Satu), Marenne, G. (Gaëlle), Marten, J. (Jonathan), Martin, N.G. (Nicholas), Mazul, A.L. (Angela L.), Meidtner, K. (Karina), Metspalu, A. (Andres), Mitchell, P. (Paul), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (Dennis), Morgan, A. (Anna), Morris, A.D. (Andrew D.), Morris, A.P. (Andrew), Müller-Nurasyid, M. (Martina), Munroe, P. (Patricia), Nalls, M.A. (Michael), Nauck, M. (Matthias), Nelson, C.P. (Christopher P.), Neville, M.J. (Matthew), Nielsen, S.F. (Sune), Nikus, K. (Kjell), Njolstad, P. (Pal), Nordestgaard, B.G. (Børge), Ntalla, I. (Ioanna), O'Connel, J.R. (Jeffrey R.), Oksa, H. (Heikki), Loohuis, L.M.O. (Loes M. Olde), Ophoff, R.A. (Roel), Owen, K.R. (Katharine R.), Packard, C.J. (Chris J.), Padmanabhan, S. (Sandosh), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Patel, A.P. (Aniruddh), Pattie, A. (Alison), Pedersen, O. (Oluf), Peissig, P.L. (Peggy L.), Peloso, G.M. (Gina), Pennell, C.E. (Craig), Perola, M. (Markus), Perry, J.A. (James A.), Perry, J.R.B. (John R.B.), Person, A.D. (Anthony), Pirie, A. (Ailith), Polasek, O. (Ozren), Posthuma, D. (Danielle), Raitakari, O.T. (Olli T.), Rasheed, A. (Asif), Rauramaa, R. (Rainer), Reilly, D.F. (Dermot F.), Reiner, A. (Alexander), Renström, F. (Frida), Ridker, P.M. (Paul), Rioux, J.D. (John), Robertson, N.R. (Neil), Robino, A. (Antonietta), Rolandsson, O. (Olov), Rudan, I. (Igor), Ruth, K.S. (Katherine S.), Saleheen, D. (Danish), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Sandow, K. (Kevin), Sapkota, Y. (Yadav), Sattar, N. (Naveed), Schmidt, M.K. (Marjanka), Schreiner, P.J. (Pamela), Schulze, M.B. (Matthias B), Scott, R.A. (Robert), Segura-Lepe, M.P. (Marcelo P.), Shah, S.H. (Svati), Sim, X. (Xueling), Sivapalaratnam, S. (Suthesh), Small, K.S. (Kerrin), Smith, A.V. (Albert Vernon), Smith, J.A. (Jennifer A), Southam, L. (Lorraine), Spector, T.D. (Timothy), Speliotes, E.K. (Elizabeth K.), Starr, J.M. (John), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Stumvoll, M. (Michael), Surendran, P. (Praveen), Hart't, L.M. (Leen M.), Tansey, K.E. (Katherine E.), Tardif, J.-C. (Jean-Claude), Taylor, K.D. (Kent), Teumer, A. (Alexander), Thompson, D. (Deborah), Thorsteinsdottir, U. (Unnur), Thuesen, B.H. (Betina H.), Tönjes, A. (Anke), Tromp, G. (Gerard), Trompet, S. (Stella), Tsafantakis, E. (Emmanouil), Tuomilehto, J. (Jaakko), Tybjaerg-Hansen, A. (Anne), Tyrer, J.P. (Jonathan), Uher, R., Uitterlinden, A.G. (André), Ulivi, S. (Sheila), Van Der Laan, S.W. (Sander W.), Van Der Leij, A.R. (Andries R.), Duijn, C.M. (Cornelia) van, Schoor, N.M. (Natasja) van, Setten, J. (Jessica) van, Varbo, A. (Anette), Varga, T.V. (Tibor V.), Varma, R. (Rohit), Velez Edwards, D.R. (Digna R.), Vermeulen, S.H.H.M. (Sita), Vestergaard, H. (Henrik), Vitart, V. (Veronique), Vogt, T.F. (Thomas F.), Vozzi, D. (Diego), Walker, M. (Mark), Wang, F. (Feijie), Wang, C.A. (Carol A.), Wang, S. (Shuai), Wang, Y. (Yiqin), Wareham, N.J. (Nicholas J.), Warren, H. (Helen), Wessel, J. (Jennifer), Willems, S.M. (Sara), Wilson, J.F. (James), Witte, D.R. (Deniel), Woods, M.O. (Michael), Wu, Y. (Ying), Yaghootkar, H. (Hanieh), Yao, J. (Jiefen), Yao, P. (Pang), Yerges-Armstrong, L.M. (Laura), Young, R. (Robin), Zeggini, E. (Eleftheria), Zhan, X. (Xiaowei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zhao, W. (Wei), Zheng, H. (He), Zhou, W. (Wei), Rotter, J.I. (Jerome I.), Boehnke, M. (Michael), Kathiresan, S. (Sekar), McCarthy, M.I. (Mark I.), Willer, C.J. (Cristen), Zwart, J-A. (John-Anker), Borecki, I.B. (Ingrid), Liu, D. (Dajiang), North, K.E. (Kari), Heard-Costa, N.L. (Nancy), Pers, T.H. (Tune), Lindgren, C.M. (Cecilia M.), Oxvig, C. (Claus), Kutalik, Z. (Zoltán), Rivadeneira Ramirez, F. (Fernando), Loos, R.J.F. (Ruth), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Deloukas, P. (Panos), Lettre, G. (Guillaume), Marouli, E. (Eirini), Graff, M.J. (Maud J.L.), Medina-Gomez, C. (Carolina), Lo, K.S., Wood, A.R. (Andrew), Kjaer, T.R. (Troels R.), Fine, R.S. (Rebecca S.), Lu, Y. (Yingchang), Schurmann, C. (Claudia), Highland, H. (Heather), Rüeger, S. (Sina), Thorleifsson, G. (Gudmar), Justice, A.E. (Anne), Lamparter, D. (David), Stirrups, K. (Kathy), Turcot, V. (Valérie), Young, K.L. (Kristin L.), Winkler, T.W. (Thomas W.), Esko, T. (Tõnu), Karaderi, T. (Tugce), Locke, A. (Adam), Masca, N.G.D. (Nicholas G.D.), Ng, M.C.Y. (Maggie C.Y.), Mudgal, P. (Poorva), Rivas, M.A. (Manuel), Vedantam, S. (Sailaja), Mahajan, A. (Anubha), Guo, X. (Xiuqing), Abecasis, G.R. (Gonçalo), Aben, K.K.H. (Katja), Adair, L.S. (Linda), Alam, D.S. (Dewan S.), Albrecht, E. (Eva), Allin, K.H. (Kristine H), Allison, M.A. (Matthew), Amouyel, P. (Philippe), Appel, E.V. (Emil V.), Arveiler, D. (Dominique), Asselbergs, F.W. (Folkert), Auer, P. (Paul), Balkau, B. (Beverley), Banas, B. (Bernhard), Bang, L.E. (Lia E.), Benn, M. (Marianne), Bergmann, S. (Sven), Bielak, L.F. (Lawrence F.), Blüher, M. (Matthias), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Böger, C.A. (Carsten), Bonnycastle, L.L. (Lori), Bork-Jensen, J. (Jette), Bots, M.L. (Michiel), Bottinger, E.P. (Erwin), Bowden, D.W. (Donald), Brandslund, I. (Ivan), Breen, G. (Gerome), Brilliant, M.H. (Murray H.), Broer, L. (Linda), Burt, A.D. (Alastair), Butterworth, A.S. (Adam), Carey, D.J. (David J.), Caulfield, M. (Mark), Chambers, J.C. (John), Chasman, D.I. (Daniel), Chen, Y.-D.I. (Yii-Der Ida), Chowdhury, R. (Rajiv), Christensen, C. (Cramer), Chu, A.Y. (Audrey), Cocca, M. (Massimiliano), Collins, F.S. (Francis), Cook, J.P. (James P.), Corley, J. (Janie), Galbany, J.C. (Jordi Corominas), Cox, A.J. (Amanda J.), Cuellar-Partida, G. (Gabriel), Danesh, J. (John), Davies, G. (Gail), Bakker, P.I.W. (Paul) de, Borst, G.J. (Gert) de, De Denus, S. (Simon), De Groot, M.C.H. (Mark C.H.), Mutsert, R. (Reneé) de, Deary, I.J. (Ian), Dedoussis, G.V. (George), Demerath, E.W. (Ellen), Hollander, A.I. (Anneke), Dennis, J. (Joe), Angelantonio, E. (Emanuele) di, Drenos, F. (Fotios), Du, M. (Mengmeng), Dunning, A.M. (Alison M.), Easton, D.F. (Douglas), Ebeling, T. (Tapani), Edwards, T.L. (Todd L.), Ellinor, P.T. (Patrick), Elliott, P. (Paul), Evangelou, E. (Evangelos), Farmaki, A.-E. (Aliki-Eleni), Faul, J.D. (Jessica D.), Feitosa, M.F. (Mary Furlan), Feng, S. (Shuang), Ferrannini, E. (Ele), Ferrario, M.M. (Marco M.), Ferrieres, J. (Jean), Florez, J.C. (Jose), Ford, I., Fornage, M. (Myriam), Franks, P.W. (Paul), Frikke-Schmidt, R. (Ruth), Galesloot, T.E. (Tessel), Gan, W. (Wei), Gandin, I. (Ilaria), Gasparini, P. (Paolo), Giedraitis, V. (Vilmantas), Giri, A. (Ayush), Girotto, S., Gordon, S.D. (Scott D.), Gordon-Larsen, P. (Penny), Gorski, M. (Mathias), Grarup, N. (Niels), Grove, M.L. (Megan), Gudnason, V. (Vilmundur), Gustafsson, S. (Stefan), Hansen, T. (T.), Harris, K.M. (Kathleen Mullan), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayward, C. (Caroline), He, L. (Liang), Heid, I.M. (Iris), Heikkilä, K. (Kauko), Helgeland, Ø. (Øyvind), Hernesniemi, J. (Jussi), Hewit, A.W. (Alex), Hocking, L.J. (Lynne), Hollensted, M. (Mette), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Howson, J.M.M. (Joanna M.M.), Hoyng, C.B. (Carel), Huang, P.L. (Paul L.), Hveem, K. (Kristian), Ikram, M.K. (Kamran), Ingelsson, E. (Erik), Jackson, A.U. (Anne), Jansson, J.-H. (Jan-Håkan), Jarvik, G.P. (Gail), Jensen, G.B. (Gorm B.), Jhun, M.A. (Min A.), Jia, Y. (Yucheng), Jiang, X. (Xuejuan), Johansson, S. (Stefan), Jørgensen, M.E. (Marit E.), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jukema, J.W. (Jan Wouter), Kahali, B. (Bratati), Kahn, R. (René), Kähönen, M. (Mika), Kamstrup, P.R. (Pia R.), Kanoni, S. (Stavroula), Kaprio, J. (Jaakko), Karaleftheri, M. (Maria), Kardia, S.L.R. (Sharon L.R.), Karpe, F. (Fredrik), Kee, F. (Frank), Keeman, J.N., Kiemeney, L.A.L.M. (Bart), Kitajima, H. (Hidetoshi), Kluivers, K.B. (Kirsten B.), Kocher, T., Komulainen, P. (Pirjo), Kontto, J. (Jukka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kriebel, J. (Jennifer), Kuivaniemi, H. (Helena), Küry, S. (Sébastien), Kuusisto, J. (Johanna), La Bianca, M. (Martina), Laakso, M. (Markku), Lakka, T.A. (Timo), Lange, E.M. (Ethan), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Larson, E.B. (Eric B.), Lee, I.-T. (I-Te), Lehtimäki, T. (Terho), Lewis, C.E. (Cora E.), Li, H. (Huaixing), Li, J. (Jin), Li-Gao, R. (Ruifang), Lin, H. (Honghuang), Lin, L.-A. (Li-An), Lin, X. (Xu), Kao, W.H.L. (Wen), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y. (Yeheng), Liu, Y. (YongMei), Lophatananon, A. (Artitaya), Luan, J. (Jian'An), Lubitz, S.A. (Steven), Lyytikäinen, L.-P. (Leo-Pekka), Mackey, D.A. (David A.), Madden, P.A. (Pamela), Manning, A.K. (Alisa), Männistö, S. (Satu), Marenne, G. (Gaëlle), Marten, J. (Jonathan), Martin, N.G. (Nicholas), Mazul, A.L. (Angela L.), Meidtner, K. (Karina), Metspalu, A. (Andres), Mitchell, P. (Paul), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (Dennis), Morgan, A. (Anna), Morris, A.D. (Andrew D.), Morris, A.P. (Andrew), Müller-Nurasyid, M. (Martina), Munroe, P. (Patricia), Nalls, M.A. (Michael), Nauck, M. (Matthias), Nelson, C.P. (Christopher P.), Neville, M.J. (Matthew), Nielsen, S.F. (Sune), Nikus, K. (Kjell), Njolstad, P. (Pal), Nordestgaard, B.G. (Børge), Ntalla, I. (Ioanna), O'Connel, J.R. (Jeffrey R.), Oksa, H. (Heikki), Loohuis, L.M.O. (Loes M. Olde), Ophoff, R.A. (Roel), Owen, K.R. (Katharine R.), Packard, C.J. (Chris J.), Padmanabhan, S. (Sandosh), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Patel, A.P. (Aniruddh), Pattie, A. (Alison), Pedersen, O. (Oluf), Peissig, P.L. (Peggy L.), Peloso, G.M. (Gina), Pennell, C.E. (Craig), Perola, M. (Markus), Perry, J.A. (James A.), Perry, J.R.B. (John R.B.), Person, A.D. (Anthony), Pirie, A. (Ailith), Polasek, O. (Ozren), Posthuma, D. (Danielle), Raitakari, O.T. (Olli T.), Rasheed, A. (Asif), Rauramaa, R. (Rainer), Reilly, D.F. (Dermot F.), Reiner, A. (Alexander), Renström, F. (Frida), Ridker, P.M. (Paul), Rioux, J.D. (John), Robertson, N.R. (Neil), Robino, A. (Antonietta), Rolandsson, O. (Olov), Rudan, I. (Igor), Ruth, K.S. (Katherine S.), Saleheen, D. (Danish), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Sandow, K. (Kevin), Sapkota, Y. (Yadav), Sattar, N. (Naveed), Schmidt, M.K. (Marjanka), Schreiner, P.J. (Pamela), Schulze, M.B. (Matthias B), Scott, R.A. (Robert), Segura-Lepe, M.P. (Marcelo P.), Shah, S.H. (Svati), Sim, X. (Xueling), Sivapalaratnam, S. (Suthesh), Small, K.S. (Kerrin), Smith, A.V. (Albert Vernon), Smith, J.A. (Jennifer A), Southam, L. (Lorraine), Spector, T.D. (Timothy), Speliotes, E.K. (Elizabeth K.), Starr, J.M. (John), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Stumvoll, M. (Michael), Surendran, P. (Praveen), Hart't, L.M. (Leen M.), Tansey, K.E. (Katherine E.), Tardif, J.-C. (Jean-Claude), Taylor, K.D. (Kent), Teumer, A. (Alexander), Thompson, D. (Deborah), Thorsteinsdottir, U. (Unnur), Thuesen, B.H. (Betina H.), Tönjes, A. (Anke), Tromp, G. (Gerard), Trompet, S. (Stella), Tsafantakis, E. (Emmanouil), Tuomilehto, J. (Jaakko), Tybjaerg-Hansen, A. (Anne), Tyrer, J.P. (Jonathan), Uher, R., Uitterlinden, A.G. (André), Ulivi, S. (Sheila), Van Der Laan, S.W. (Sander W.), Van Der Leij, A.R. (Andries R.), Duijn, C.M. (Cornelia) van, Schoor, N.M. (Natasja) van, Setten, J. (Jessica) van, Varbo, A. (Anette), Varga, T.V. (Tibor V.), Varma, R. (Rohit), Velez Edwards, D.R. (Digna R.), Vermeulen, S.H.H.M. (Sita), Vestergaard, H. (Henrik), Vitart, V. (Veronique), Vogt, T.F. (Thomas F.), Vozzi, D. (Diego), Walker, M. (Mark), Wang, F. (Feijie), Wang, C.A. (Carol A.), Wang, S. (Shuai), Wang, Y. (Yiqin), Wareham, N.J. (Nicholas J.), Warren, H. (Helen), Wessel, J. (Jennifer), Willems, S.M. (Sara), Wilson, J.F. (James), Witte, D.R. (Deniel), Woods, M.O. (Michael), Wu, Y. (Ying), Yaghootkar, H. (Hanieh), Yao, J. (Jiefen), Yao, P. (Pang), Yerges-Armstrong, L.M. (Laura), Young, R. (Robin), Zeggini, E. (Eleftheria), Zhan, X. (Xiaowei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zhao, W. (Wei), Zheng, H. (He), Zhou, W. (Wei), Rotter, J.I. (Jerome I.), Boehnke, M. (Michael), Kathiresan, S. (Sekar), McCarthy, M.I. (Mark I.), Willer, C.J. (Cristen), Zwart, J-A. (John-Anker), Borecki, I.B. (Ingrid), Liu, D. (Dajiang), North, K.E. (Kari), Heard-Costa, N.L. (Nancy), Pers, T.H. (Tune), Lindgren, C.M. (Cecilia M.), Oxvig, C. (Claus), Kutalik, Z. (Zoltán), Rivadeneira Ramirez, F. (Fernando), Loos, R.J.F. (Ruth), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Deloukas, P. (Panos), and Lettre, G. (Guillaume)
Abstract: Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of I
Published: 2017
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6. 1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function

Author: Gorski, M. (Mathias), Most, P.J. (Peter) van der, Teumer, A. (Alexander), Chu, A.Y. (Audrey Y), Li, M. (Man), Mijatovic, V. (Vladan), Nolte, I.M. (Ilja), Cocca, M. (Massimiliano), Taliun, D. (Daniel), Gomez, F. (Felicia), Li, Y. (Yong), Tayo, B. (Bamidele), Tin, A. (Adrienne), Feitosa, M.F., Aspelund, T. (Thor), Attia, J. (John), Biffar, R. (Reiner), Bochud, M. (Murielle), Boerwinkle, E. (Eric), Borecki, I.B. (Ingrid), Bottinger, E.P. (Erwin), Chen, M.-H. (Ming-Huei), Chouraki, V. (Vincent), Ciullo, M. (Marina), Coresh, J. (Josef), Cornelis, M. (Marilyn), Curhan, G.C. (Gary), D'Adamo, A.P. (Adamo Pio), Dehghan, A. (Abbas), Dengler, L. (Laura), Ding, J. (Jingzhong), Eiriksdottir, G. (Gudny), Endlich, K. (Karlhans), Enroth, S. (Stefan), Esko, T. (Tõnu), Franco, O.H. (Oscar H.), Gasparini, P. (Paolo), Gieger, C. (Christian), Girotto, S., Gottesman, O. (Omri), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hancock, S.J. (Stephen J.), Harris, T.B. (Tamara), Helmer, C. (Catherine), Höllerer, S. (Simon), Hofer, E. (Edith), Hofman, A. (Albert), Holliday, E.G. (Elizabeth), Homuth, G. (Georg), Hu, F.B. (Frank), Huth, C. (Cornelia), Hutri-Kähönen, N. (Nina), Hwang, S.-J. (Shih-Jen), Imboden, M. (Medea), Johansson, A. (Åsa), Kähönen, M. (Mika), König, W. (Wolfgang), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kumar, A. (Ashish), Kutalik, Z. (Zoltán), Lambert, J.-C. (J.), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), De Borst, M.H. (Martin H.), Navis, G. (Gerjan), Swertz, M. (Morris), Liu, Y. (YongMei), Lohman, K. (Kurt), Loos, R.J.F. (Ruth), Lu, Y. (Yingchang), Lyytikäinen, L.-P. (Leo-Pekka), McEvoy, M. (Mark), Meisinger, C. (Christa), Meitinger, T. (Thomas), Metspalu, A. (Andres), Metzger, M. (Marie), Mihailov, E. (Evelin), Mitchell, P. (Paul), Nauck, M. (Matthias), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Penninx, B.W.J.H. (Brenda), Pistis, G. (Giorgio), Pramstaller, P.P. (Peter P.), Probst-Hensch, N.M. (Nicole M.), Raitakari, O.T. (Olli T.), Rettig, R. (Rainer), Ridker, P.M. (Paul), Rivadeneira, F. (Fernando), Robino, A. (Antonietta), Rosas, S.E. (Sylvia E.), Ruderfer, D. (Douglas), Ruggiero, D., Saba, Y. (Yasaman), Sala, C. (Cinzia), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Scott, R.J. (Rodney J.), Sedaghat, S. (Sanaz), Smith, A.V. (Albert), Sorice, R., Stengel, B. (Bernd), Stracke, S. (Sylvia), Strauch, K. (Konstantin), Toniolo, D. (Daniela), Uitterlinden, A.G. (André), Ulivi, S. (Sheila), Viikari, J. (Jorma), Völker, U. (Uwe), Vollenweider, P. (Peter), Völzke, H. (Henry), Vuckovic, D. (Dragana), Waldenberger, M. (Melanie), Wang, J.J. (Jie Jin), Yang, Q. (Qiong Fang), Chasman, D.I. (Daniel), Tromp, G. (Gerard), Snieder, H. (Harold), Heid, I.M. (Iris), Fox, C.S. (Caroline), Köttgen, A. (Anna), Penninx, B.W.J.H., Böger, C.A. (Carsten), Fuchsberger, C. (Christian), Gorski, M. (Mathias), Most, P.J. (Peter) van der, Teumer, A. (Alexander), Chu, A.Y. (Audrey Y), Li, M. (Man), Mijatovic, V. (Vladan), Nolte, I.M. (Ilja), Cocca, M. (Massimiliano), Taliun, D. (Daniel), Gomez, F. (Felicia), Li, Y. (Yong), Tayo, B. (Bamidele), Tin, A. (Adrienne), Feitosa, M.F., Aspelund, T. (Thor), Attia, J. (John), Biffar, R. (Reiner), Bochud, M. (Murielle), Boerwinkle, E. (Eric), Borecki, I.B. (Ingrid), Bottinger, E.P. (Erwin), Chen, M.-H. (Ming-Huei), Chouraki, V. (Vincent), Ciullo, M. (Marina), Coresh, J. (Josef), Cornelis, M. (Marilyn), Curhan, G.C. (Gary), D'Adamo, A.P. (Adamo Pio), Dehghan, A. (Abbas), Dengler, L. (Laura), Ding, J. (Jingzhong), Eiriksdottir, G. (Gudny), Endlich, K. (Karlhans), Enroth, S. (Stefan), Esko, T. (Tõnu), Franco, O.H. (Oscar H.), Gasparini, P. (Paolo), Gieger, C. (Christian), Girotto, S., Gottesman, O. (Omri), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hancock, S.J. (Stephen J.), Harris, T.B. (Tamara), Helmer, C. (Catherine), Höllerer, S. (Simon), Hofer, E. (Edith), Hofman, A. (Albert), Holliday, E.G. (Elizabeth), Homuth, G. (Georg), Hu, F.B. (Frank), Huth, C. (Cornelia), Hutri-Kähönen, N. (Nina), Hwang, S.-J. (Shih-Jen), Imboden, M. (Medea), Johansson, A. (Åsa), Kähönen, M. (Mika), König, W. (Wolfgang), Kramer, H. (Holly), Krämer, B.K. (Bernhard), Kumar, A. (Ashish), Kutalik, Z. (Zoltán), Lambert, J.-C. (J.), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), De Borst, M.H. (Martin H.), Navis, G. (Gerjan), Swertz, M. (Morris), Liu, Y. (YongMei), Lohman, K. (Kurt), Loos, R.J.F. (Ruth), Lu, Y. (Yingchang), Lyytikäinen, L.-P. (Leo-Pekka), McEvoy, M. (Mark), Meisinger, C. (Christa), Meitinger, T. (Thomas), Metspalu, A. (Andres), Metzger, M. (Marie), Mihailov, E. (Evelin), Mitchell, P. (Paul), Nauck, M. (Matthias), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Penninx, B.W.J.H. (Brenda), Pistis, G. (Giorgio), Pramstaller, P.P. (Peter P.), Probst-Hensch, N.M. (Nicole M.), Raitakari, O.T. (Olli T.), Rettig, R. (Rainer), Ridker, P.M. (Paul), Rivadeneira, F. (Fernando), Robino, A. (Antonietta), Rosas, S.E. (Sylvia E.), Ruderfer, D. (Douglas), Ruggiero, D., Saba, Y. (Yasaman), Sala, C. (Cinzia), Schmidt, H. (Helena), Schmidt, R. (Reinhold), Scott, R.J. (Rodney J.), Sedaghat, S. (Sanaz), Smith, A.V. (Albert), Sorice, R., Stengel, B. (Bernd), Stracke, S. (Sylvia), Strauch, K. (Konstantin), Toniolo, D. (Daniela), Uitterlinden, A.G. (André), Ulivi, S. (Sheila), Viikari, J. (Jorma), Völker, U. (Uwe), Vollenweider, P. (Peter), Völzke, H. (Henry), Vuckovic, D. (Dragana), Waldenberger, M. (Melanie), Wang, J.J. (Jie Jin), Yang, Q. (Qiong Fang), Chasman, D.I. (Daniel), Tromp, G. (Gerard), Snieder, H. (Harold), Heid, I.M. (Iris), Fox, C.S. (Caroline), Köttgen, A. (Anna), Penninx, B.W.J.H., Böger, C.A. (Carsten), and Fuchsberger, C. (Christian)
Abstract: HapMap imputed genome-wide association studies (GWAS) have revealed >50 loci at which common variants with minor allele frequency >5% are associated with kidney function. GWAS using more complete reference sets for imputation, such as those from The 1000 Genomes project, promise to identify novel loci that have been missed by previous efforts. To investigate the value of such a more complete variant catalog, we conducted a GWAS meta-Analysis of kidney function based on the estimated glomerular filtration rate (EGFR) in 110,517 European ancestry participants using 1000 Genomes imputed data. We identified 10 novel loci with p-value < 5 × 10-8 previously missed by HapMap-based GWAS. Six of these loci (HOXD8, ARL15, PIK3R1, EYA4, ASTN2, and EPB41L3) are tagged by common SNPs unique to the 1000 Genomes reference panel. Using pathway analysis, we identified 39 significant (FDR < 0.05) genes and 127 significantly (FDR < 0.05) enriched gene sets, whi
Published: 2017
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7. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Author: Mace, A. (Aurelien), Tuke, M.A. (Marcus A.), Deelen, P. (Patrick), Kristiansson, K. (Kati), Mattsson, H. (Hannele), Nõukas, M. (Margit), Sapkota, Y. (Yadav), Schick, U.M. (Ursula), Porcu, E. (Eleonora), Rüeger, S. (Sina), McDaid, A.F. (Aaron F.), Porteous, D.J. (David J.), Winkler, T.W. (Thomas W.), Salvi, E. (Erika), Shrine, N.R.G. (Nick), Liu, X. (Xueping), Ang, W.Q. (Wei), Zhang, W. (Weihua), Feitosa, M.F., Venturini, C. (Cristina), Most, P.J. (Peter) van der, Rosengren, A. (Anders), Wood, A.R. (Andrew), Beaumont, R.N. (Robin N.), Jones, S.E. (Samuel E.), Ruth, K.S. (Katherine S.), Yaghootkar, H. (Hanieh), Tyrrell, A.W.R., Havulinna, A.S. (Aki), Boers, H. (Harmen), Mägi, R. (Reedik), Kriebel, J. (Jennifer), Müller-Nurasyid, M. (Martina), Perola, M. (Markus), Nieminen, M.S. (Markku), Lokki, M.L., Kähönen, M. (Mika), Viikari, J. (Jorma), Geller, F. (Frank), Lahti, J., Palotie, A. (Aarno), Koponen, P. (Päivikki), Lundqvist, A. (Annamari), Rissanen, H. (Harri), Bottinger, E.P. (Erwin), Afaq, S. (Saima), Wojczynski, M.K. (Mary ), Lenzini, P. (Petra), Nolte, I.M. (Ilja), Sparsø, T. (Thomas), Schupf, N. (Nicole), Christensen, K. (Kaare), Perls, T.T. (Thomas T.), Newman, A.B. (Anne B.), Werge, T.M. (Thomas), Snieder, H. (Harold), Spector, T.D. (Timothy), Chambers, J.C. (John C.), Koskinen, S. (Seppo), Melbye, M. (Mads), Raitakari, O.T. (Olli T.), Lehtimäki, T. (Terho), Tobin, M.D. (Martin), Wain, L.V. (Louise V.), Sinisalo, J. (Juha), Peters, A. (Annette), Meitinger, T. (Thomas), Martin, N.G. (Nicholas), Wray, N.R. (Naomi), Montgomery, G.W. (Grant W.), Medland, S.E. (Sarah), Swertz, M.A. (Morris A.), Vartiainen, E. (Erkki), Borodulin, K. (Katja), Männistö, S. (Satu), Murray, A. (Anna), Bochud, M. (Murielle), Jacquemont, S. (Sébastien), Rivadeneira, F. (Fernando), Hansen, T. (Thomas), Oldehinkel, A.J. (Albertine), Mangino, M. (Massimo), Province, M.A. (Mike), Deloukas, P. (Panos), Kooner, J.S. (Jaspal S.), Freathy, R.M. (Rachel), Pennell, C.E. (Craig), Feenstra, B. (Bjarke), Strachan, D.P. (David), Lettre, G. (Guillaume), Hirschhorn, J.N. (Joel), Cusi, D. (Daniele), Heid, I.M. (Iris), Hayward, C. (Caroline), Männik, K. (Katrin), Beckmann, J.S. (Jacques), Loos, R.J.F. (Ruth), Nyholt, D.R. (Dale), Metspalu, A. (Andres), Hagen, K. (Knut), Weedon, M.N. (Michael), Salomaa, V. (Veikko), Franke, L. (Lude), Reymond, A. (Alexandre), Frayling, T.M. (Timothy M.), Kutalik, Z. (Zoltán), Mace, A. (Aurelien), Tuke, M.A. (Marcus A.), Deelen, P. (Patrick), Kristiansson, K. (Kati), Mattsson, H. (Hannele), Nõukas, M. (Margit), Sapkota, Y. (Yadav), Schick, U.M. (Ursula), Porcu, E. (Eleonora), Rüeger, S. (Sina), McDaid, A.F. (Aaron F.), Porteous, D.J. (David J.), Winkler, T.W. (Thomas W.), Salvi, E. (Erika), Shrine, N.R.G. (Nick), Liu, X. (Xueping), Ang, W.Q. (Wei), Zhang, W. (Weihua), Feitosa, M.F., Venturini, C. (Cristina), Most, P.J. (Peter) van der, Rosengren, A. (Anders), Wood, A.R. (Andrew), Beaumont, R.N. (Robin N.), Jones, S.E. (Samuel E.), Ruth, K.S. (Katherine S.), Yaghootkar, H. (Hanieh), Tyrrell, A.W.R., Havulinna, A.S. (Aki), Boers, H. (Harmen), Mägi, R. (Reedik), Kriebel, J. (Jennifer), Müller-Nurasyid, M. (Martina), Perola, M. (Markus), Nieminen, M.S. (Markku), Lokki, M.L., Kähönen, M. (Mika), Viikari, J. (Jorma), Geller, F. (Frank), Lahti, J., Palotie, A. (Aarno), Koponen, P. (Päivikki), Lundqvist, A. (Annamari), Rissanen, H. (Harri), Bottinger, E.P. (Erwin), Afaq, S. (Saima), Wojczynski, M.K. (Mary ), Lenzini, P. (Petra), Nolte, I.M. (Ilja), Sparsø, T. (Thomas), Schupf, N. (Nicole), Christensen, K. (Kaare), Perls, T.T. (Thomas T.), Newman, A.B. (Anne B.), Werge, T.M. (Thomas), Snieder, H. (Harold), Spector, T.D. (Timothy), Chambers, J.C. (John C.), Koskinen, S. (Seppo), Melbye, M. (Mads), Raitakari, O.T. (Olli T.), Lehtimäki, T. (Terho), Tobin, M.D. (Martin), Wain, L.V. (Louise V.), Sinisalo, J. (Juha), Peters, A. (Annette), Meitinger, T. (Thomas), Martin, N.G. (Nicholas), Wray, N.R. (Naomi), Montgomery, G.W. (Grant W.), Medland, S.E. (Sarah), Swertz, M.A. (Morris A.), Vartiainen, E. (Erkki), Borodulin, K. (Katja), Männistö, S. (Satu), Murray, A. (Anna), Bochud, M. (Murielle), Jacquemont, S. (Sébastien), Rivadeneira, F. (Fernando), Hansen, T. (Thomas), Oldehinkel, A.J. (Albertine), Mangino, M. (Massimo), Province, M.A. (Mike), Deloukas, P. (Panos), Kooner, J.S. (Jaspal S.), Freathy, R.M. (Rachel), Pennell, C.E. (Craig), Feenstra, B. (Bjarke), Strachan, D.P. (David), Lettre, G. (Guillaume), Hirschhorn, J.N. (Joel), Cusi, D. (Daniele), Heid, I.M. (Iris), Hayward, C. (Caroline), Männik, K. (Katrin), Beckmann, J.S. (Jacques), Loos, R.J.F. (Ruth), Nyholt, D.R. (Dale), Metspalu, A. (Andres), Hagen, K. (Knut), Weedon, M.N. (Michael), Salomaa, V. (Veikko), Franke, L. (Lude), Reymond, A. (Alexandre), Frayling, T.M. (Timothy M.), and Kutalik, Z. (Zoltán)
Abstract: There are few examples of robust associations between rare copy number variants (CNVs) and complex continuous human traits. Here we present a large-scale CNV association meta-analysis on anthropometric traits in up to 191,161 adult samples from 26 cohorts. The study reveals five CNV associations at 1q21.1, 3q29, 7q11.23, 11p14.2, and 18q21.32 and confirms two known loci at 16p11.2 and 22q11.21, implicating at least one anthropometric trait. The discovered CNVs are recurrent and rare (0.01-0.2%), with large effects on height (>2.4 cm), weight (>5 kg), and body mass index (BMI) (>3.5 kg/m2). Burden analysis shows a 0.41 cm decrease in height, a 0.003 increase in waist-to-hip ratio and increa
Published: 2017
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8. Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults

Author: Graff, M.J. (Maud J.L.), Scott, R.A. (Robert), Justice, A.E. (Anne), Young, K.L. (Kristin L.), Feitosa, M.F. (Mary Furlan), Barata, L. (Llilda), Winkler, T.W. (Thomas W.), Chu, A.Y. (Audrey), Mahajan, A. (Anubha), Hadley, D. (David), Xue, L. (Luting), Workalemahu, T. (Tsegaselassie), Heard-Costa, N.L. (Nancy), Hoed, M. (Marcel) den, Ahluwalia, T.S. (Tarunveer Singh), Qi, Q., Ngwa, J.S., Renström, F. (Frida), Quaye, L. (Lydia), Eicher, J.D. (John D.), Hayes, J.E. (James E.), Cornelis, M. (Marilyn), Kutalik, Z. (Zoltán), Lim, E. (Elise), Luan, J. (Jian'An), Huffman, J.E. (Jennifer), Zhang, W. (Weihua), Zhao, W. (Wei), Griffin, P.J. (Paula J.), Haller, T. (Toomas), Ahmad, S. (Shafqat), Marques-Vidal, P. (Pedro), Bien, S. (Stephanie), Yengo, L. (Loic), Teumer, A. (Alexander), Smith, A.V. (Albert Vernon), Kumari, M. (Meena), Harder, M.N. (Marie Neergaard), Justesen, J.M. (Johanne M.), Kleber, M.E. (Marcus), Hollensted, M. (Mette), Lohman, K. (Kurt), Rivera, N.V. (Natalia), Whitfield, J.B. (John B.), Zhao, J.H. (Jing Hua), Stringham, H.M. (Heather), Lyytikäinen, L.-P. (Leo-Pekka), Huppertz, C. (Charlotte), Willemsen, G.A.H.M. (Gonneke), Peyrot, W.J. (Wouter ), Wu, Y. (Ying), Kristiansson, K. (Kati), Demirkan, A. (Ayşe), Fornage, M. (Myriam), Hassinen, M. (Maija), Bielak, L.F. (Lawrence F.), Cadby, G. (Gemma), Tanaka, T. (Toshiko), Mägi, R. (Reedik), Most, P.J. (Peter) van der, Jackson, A.U. (Anne), Bragg-Gresham, J.L. (Jennifer L.), Vitart, V. (Veronique), Marten, J. (Jonathan), Navarro, P. (Pau), Bellis, C. (Claire), Pasko, D. (Dorota), Johansson, Å. (Åsa), Snitker, S. (Soren), Cheng, Y.-C. (Yu-Ching), Eriksson, J. (Joel), Lim, U. (Unhee), Aadahl, M. (Mette), Adair, L.S. (Linda), Amin, N. (Najaf), Balkau, B. (Beverley), Auvinen, J. (Juha), Beilby, J.P. (John), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Bertoni, A.G. (Alain G.), Blangero, J. (John), Bonnefond, A. (Amélie), Bonnycastle, L.L. (Lori), Borja, J.B. (Judith), Brage, S. (Soren), Busonero, F., Buyske, S. (Steven), Campbell, H. (Harry), Chines, P.S. (Peter), Collins, F.S. (Francis), Corre, T. (Tanguy), Smith, G.D. (George Davey), Delgado, G., Dueker, N. (Nicole), Dörr, M. (Marcus), Ebeling, T. (Tapani), Eiriksdottir, G. (Gudny), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Fu, M. (Mao), Færch, K. (Kristine), Gieger, C. (Christian), Gläser, S., Gong, J. (Jian), Gordon-Larsen, P. (Penny), Grallert, H. (Harald), Grammer, T.B. (Tanja B), Grarup, N. (Niels), Grootheest, G. (Gerard) van, Harald, K. (Kennet), Hastie, N. (Nick), Havulinna, A.S. (Aki), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J. (Lynne), Holmens, O.L. (Oddgeir L.), Holzapfel, C. (Christina), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Huang, T. (Tao), Hui, J. (Jennie), Huth, C. (Cornelia), Hutri-Kähönen, N. (Nina), James, A. (Alan), Jansson, J.-O. (John-Olov), Jhun, M.A. (Min A.), Juonala, M. (Markus), Kinnunen, L. (Leena), Koistinen, H. (Heikki), Kolcic, I. (Ivana), Komulainen, P. (Pirjo), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Kähönen, M. (Mika), Lakka, T.A. (Timo), Launer, L.J. (Lenore), Lehne, B. (Benjamin), Lindgren, C.M. (Cecilia M.), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Marre, M. (Michel), Milaneschi, Y. (Yuri), Monda, K.L. (Keri), Montgomery, G.W. (Grant W.), Moor, M.H.M. de, Mulas, A. (Antonella), Müller-Nurasyid, M. (Martina), Musk, A.W., Männikkö, R. (Reija), Männistö, S. (Satu), Narisu, N. (Narisu), Nauck, M. (Matthias), Nettleton, J.A. (Jennifer ), Nolte, I.M. (Ilja M.), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Paternoster, L. (Lavinia), Perez, J. (Jeremiah), Perola, M. (Markus), Peters, A. (Annette), Peters, U. (Ulrike), Peyser, P.A. (Patricia A.), Prokopenko, I. (Inga), Puolijoki, H. (Hannu), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rasmussen-Torvik, L.J. (Laura J.), Rawal, R. (Rajesh), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Rudan, I. (Igor), Sarti, C. (Cinzia), Sarzynski, M.A. (Mark A.), Savonen, K. (Kai), Scott, W.R. (William R.), Sanna, S. (Serena), Shuldiner, A.R. (Alan), Sidney, S. (Steve), Silbernagel, G. (Günther), Smith, B.H., Smith, J.A. (Jennifer A), Snieder, H. (Harold), Stancáková, A. (Alena), Sternfeld, B. (Barbara), Swift, A.J. (Amy), Tammelin, T. (Tuija), Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Vandenput, L. (Liesbeth), Vestergaard, H. (Henrik), Vliet-Ostaptchouk, J.V. (Jana) van, Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Waeber, G. (Gérard), Walker, M. (Mark), Wild, S. (Sarah), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Zubair, N. (Niha), Haiman, C.A. (Christopher), LeMarchand, L. (Loic), Gyllensten, U. (Ulf), Ohlsson, C. (Claes), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Perusse, L. (Louis), Wilson, J.F. (James), Hayward, C. (Caroline), Polasek, O. (Ozren), Cucca, F. (Francesco), Hveem, K. (Kristian), Hartman, C.A. (Catharina A.), Tönjes, A. (Anke), Bandinelli, S. (Stefania), Palmer, L.J. (Lyle J.), Kardia, S.L.R. (Sharon L. R.), Rauramaa, R. (Rainer), Sørensen, T.I.A. (Thorkild), Tuomilehto, J. (Jaakko), Salomaa, V. (Veikko), Penninx, B.W.J.H. (Brenda), Geus, E.J.C. (Eco) de, Boomsma, D.I. (Dorret), Lehtimäki, T. (Terho), Mangino, M. (Massimo), Laakso, M. (Markku), Bouchard, C. (Claude), Martin, N.G. (Nicholas), Kuh, D. (Diana), Liu, Y. (YongMei), Linneberg, A. (Allan), März, W. (Winfried), Strauch, K. (Konstantin), Kivimaki, M. (Mika), Harris, T.B. (Tamara), Gudnason, V. (Vilmundur), Völzke, H. (Henry), Qi, L. (Lu), Jarvelin, M.-R. (Marjo-Riitta), Chambers, J.C. (John), Kooner, J.S. (Jaspal S.), Froguel, P. (Philippe), Kooperberg, C. (Charles), Vollenweider, P. (Peter), Hallmans, G. (Göran), Hansen, T. (T.), Pedersen, O. (Oluf), Metspalu, A. (Andres), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Weir, D.R. (David), Porteous, D.J. (David J.), Boerwinkle, E.A. (Eric), Chasman, D.I. (Daniel), Abecasis, G.R. (Gonçalo R.), Barroso, I.E. (Inês), McCarthy, M.I. (Mark I.), Frayling, T.M. (Timothy), O’Connell, J.R. (Jeffrey R.), Duijn, C.M. (Cornelia) van, Boehnke, M. (Michael), Heid, I.M. (Iris), Mohlke, K.L. (Karen), Strachan, D.P. (David), Fox, C.S. (Caroline), Liu, C.-T. (Ching-Ti), Hirschhorn, J.N. (Joel), Klein, R.J. (Robert J.), Johnson, A.D. (Andrew), Borecki, I.B. (Ingrid), Franks, P.W. (Paul), North, K.E. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Graff, M.J. (Maud J.L.), Scott, R.A. (Robert), Justice, A.E. (Anne), Young, K.L. (Kristin L.), Feitosa, M.F. (Mary Furlan), Barata, L. (Llilda), Winkler, T.W. (Thomas W.), Chu, A.Y. (Audrey), Mahajan, A. (Anubha), Hadley, D. (David), Xue, L. (Luting), Workalemahu, T. (Tsegaselassie), Heard-Costa, N.L. (Nancy), Hoed, M. (Marcel) den, Ahluwalia, T.S. (Tarunveer Singh), Qi, Q., Ngwa, J.S., Renström, F. (Frida), Quaye, L. (Lydia), Eicher, J.D. (John D.), Hayes, J.E. (James E.), Cornelis, M. (Marilyn), Kutalik, Z. (Zoltán), Lim, E. (Elise), Luan, J. (Jian'An), Huffman, J.E. (Jennifer), Zhang, W. (Weihua), Zhao, W. (Wei), Griffin, P.J. (Paula J.), Haller, T. (Toomas), Ahmad, S. (Shafqat), Marques-Vidal, P. (Pedro), Bien, S. (Stephanie), Yengo, L. (Loic), Teumer, A. (Alexander), Smith, A.V. (Albert Vernon), Kumari, M. (Meena), Harder, M.N. (Marie Neergaard), Justesen, J.M. (Johanne M.), Kleber, M.E. (Marcus), Hollensted, M. (Mette), Lohman, K. (Kurt), Rivera, N.V. (Natalia), Whitfield, J.B. (John B.), Zhao, J.H. (Jing Hua), Stringham, H.M. (Heather), Lyytikäinen, L.-P. (Leo-Pekka), Huppertz, C. (Charlotte), Willemsen, G.A.H.M. (Gonneke), Peyrot, W.J. (Wouter ), Wu, Y. (Ying), Kristiansson, K. (Kati), Demirkan, A. (Ayşe), Fornage, M. (Myriam), Hassinen, M. (Maija), Bielak, L.F. (Lawrence F.), Cadby, G. (Gemma), Tanaka, T. (Toshiko), Mägi, R. (Reedik), Most, P.J. (Peter) van der, Jackson, A.U. (Anne), Bragg-Gresham, J.L. (Jennifer L.), Vitart, V. (Veronique), Marten, J. (Jonathan), Navarro, P. (Pau), Bellis, C. (Claire), Pasko, D. (Dorota), Johansson, Å. (Åsa), Snitker, S. (Soren), Cheng, Y.-C. (Yu-Ching), Eriksson, J. (Joel), Lim, U. (Unhee), Aadahl, M. (Mette), Adair, L.S. (Linda), Amin, N. (Najaf), Balkau, B. (Beverley), Auvinen, J. (Juha), Beilby, J.P. (John), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Bertoni, A.G. (Alain G.), Blangero, J. (John), Bonnefond, A. (Amélie), Bonnycastle, L.L. (Lori), Borja, J.B. (Judith), Brage, S. (Soren), Busonero, F., Buyske, S. (Steven), Campbell, H. (Harry), Chines, P.S. (Peter), Collins, F.S. (Francis), Corre, T. (Tanguy), Smith, G.D. (George Davey), Delgado, G., Dueker, N. (Nicole), Dörr, M. (Marcus), Ebeling, T. (Tapani), Eiriksdottir, G. (Gudny), Esko, T. (Tõnu), Faul, J.D. (Jessica D.), Fu, M. (Mao), Færch, K. (Kristine), Gieger, C. (Christian), Gläser, S., Gong, J. (Jian), Gordon-Larsen, P. (Penny), Grallert, H. (Harald), Grammer, T.B. (Tanja B), Grarup, N. (Niels), Grootheest, G. (Gerard) van, Harald, K. (Kennet), Hastie, N. (Nick), Havulinna, A.S. (Aki), Hernandez, D.G. (Dena), Hindorff, L.A. (Lucia A), Hocking, L.J. (Lynne), Holmens, O.L. (Oddgeir L.), Holzapfel, C. (Christina), Hottenga, J.J. (Jouke Jan), Huang, J. (Jian), Huang, T. (Tao), Hui, J. (Jennie), Huth, C. (Cornelia), Hutri-Kähönen, N. (Nina), James, A. (Alan), Jansson, J.-O. (John-Olov), Jhun, M.A. (Min A.), Juonala, M. (Markus), Kinnunen, L. (Leena), Koistinen, H. (Heikki), Kolcic, I. (Ivana), Komulainen, P. (Pirjo), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Kähönen, M. (Mika), Lakka, T.A. (Timo), Launer, L.J. (Lenore), Lehne, B. (Benjamin), Lindgren, C.M. (Cecilia M.), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Marre, M. (Michel), Milaneschi, Y. (Yuri), Monda, K.L. (Keri), Montgomery, G.W. (Grant W.), Moor, M.H.M. de, Mulas, A. (Antonella), Müller-Nurasyid, M. (Martina), Musk, A.W., Männikkö, R. (Reija), Männistö, S. (Satu), Narisu, N. (Narisu), Nauck, M. (Matthias), Nettleton, J.A. (Jennifer ), Nolte, I.M. (Ilja M.), Oldehinkel, A.J. (Albertine), Olden, M. (Matthias), Ong, K.K. (Ken K.), Padmanabhan, S. (Sandosh), Paternoster, L. (Lavinia), Perez, J. (Jeremiah), Perola, M. (Markus), Peters, A. (Annette), Peters, U. (Ulrike), Peyser, P.A. (Patricia A.), Prokopenko, I. (Inga), Puolijoki, H. (Hannu), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rasmussen-Torvik, L.J. (Laura J.), Rawal, R. (Rajesh), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Rudan, I. (Igor), Sarti, C. (Cinzia), Sarzynski, M.A. (Mark A.), Savonen, K. (Kai), Scott, W.R. (William R.), Sanna, S. (Serena), Shuldiner, A.R. (Alan), Sidney, S. (Steve), Silbernagel, G. (Günther), Smith, B.H., Smith, J.A. (Jennifer A), Snieder, H. (Harold), Stancáková, A. (Alena), Sternfeld, B. (Barbara), Swift, A.J. (Amy), Tammelin, T. (Tuija), Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Thuillier, D. (Dorothee), Vandenput, L. (Liesbeth), Vestergaard, H. (Henrik), Vliet-Ostaptchouk, J.V. (Jana) van, Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Waeber, G. (Gérard), Walker, M. (Mark), Wild, S. (Sarah), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Zubair, N. (Niha), Haiman, C.A. (Christopher), LeMarchand, L. (Loic), Gyllensten, U. (Ulf), Ohlsson, C. (Claes), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Perusse, L. (Louis), Wilson, J.F. (James), Hayward, C. (Caroline), Polasek, O. (Ozren), Cucca, F. (Francesco), Hveem, K. (Kristian), Hartman, C.A. (Catharina A.), Tönjes, A. (Anke), Bandinelli, S. (Stefania), Palmer, L.J. (Lyle J.), Kardia, S.L.R. (Sharon L. R.), Rauramaa, R. (Rainer), Sørensen, T.I.A. (Thorkild), Tuomilehto, J. (Jaakko), Salomaa, V. (Veikko), Penninx, B.W.J.H. (Brenda), Geus, E.J.C. (Eco) de, Boomsma, D.I. (Dorret), Lehtimäki, T. (Terho), Mangino, M. (Massimo), Laakso, M. (Markku), Bouchard, C. (Claude), Martin, N.G. (Nicholas), Kuh, D. (Diana), Liu, Y. (YongMei), Linneberg, A. (Allan), März, W. (Winfried), Strauch, K. (Konstantin), Kivimaki, M. (Mika), Harris, T.B. (Tamara), Gudnason, V. (Vilmundur), Völzke, H. (Henry), Qi, L. (Lu), Jarvelin, M.-R. (Marjo-Riitta), Chambers, J.C. (John), Kooner, J.S. (Jaspal S.), Froguel, P. (Philippe), Kooperberg, C. (Charles), Vollenweider, P. (Peter), Hallmans, G. (Göran), Hansen, T. (T.), Pedersen, O. (Oluf), Metspalu, A. (Andres), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Weir, D.R. (David), Porteous, D.J. (David J.), Boerwinkle, E.A. (Eric), Chasman, D.I. (Daniel), Abecasis, G.R. (Gonçalo R.), Barroso, I.E. (Inês), McCarthy, M.I. (Mark I.), Frayling, T.M. (Timothy), O’Connell, J.R. (Jeffrey R.), Duijn, C.M. (Cornelia) van, Boehnke, M. (Michael), Heid, I.M. (Iris), Mohlke, K.L. (Karen), Strachan, D.P. (David), Fox, C.S. (Caroline), Liu, C.-T. (Ching-Ti), Hirschhorn, J.N. (Joel), Klein, R.J. (Robert J.), Johnson, A.D. (Andrew), Borecki, I.B. (Ingrid), Franks, P.W. (Paul), North, K.E. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), and Kilpeläinen, T.O. (Tuomas)
Abstract: Physical activity (PA) may modify the genetic effects that give rise to increased risk of obesity. To identify adiposity loci whose effects are modified by PA, we performed genome-wide interaction meta-analyses of BMI and BMI-adjusted waist circumference and waist-hip ratio from up to 200,452 adults of European (n = 180,423) or other ancestry (n = 20,029). We standardized PA by categorizing it into a dichotomous variable where, on average, 23% of participants were categorized as inactive and 77% as physically active. While we replicate the interaction with PA for the strongest known obesity-risk locus in the FTO gene, of which the effect is attenuated by ~30% in physically active individuals compared to inactive individuals, we do not identify additional loci that are sensitive to PA. In additional genome-wide meta-analyses adjusting for PA and interaction with PA, we identify 11 novel adiposity loci, suggesting that accounting for PA or other environmental factors that contribute to variation in adiposity may facilitate gene discovery.
Published: 2017
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9. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Author: Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), Li, M. (Mingyao), Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), and Li, M. (Mingyao)
Abstract: Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10 -8) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10 -10). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.
Published: 2016
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10. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

Author: Ried, J.S. (Janina), Jeff, J. (Janina), Chu, A.Y. (Audrey Y), Bragg-Gresham, J.L. (Jennifer L.), Dongen, J. (Jenny) van, Huffman, J.E. (Jennifer), Ahluwalia, T.S. (Tarunveer Singh), Cadby, G. (Gemma), Eklund, N. (Niina), Eriksson, J. (Joel), Esko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Gorski, M. (Mathias), Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Jackson, A.U. (Anne), Jokinen, E. (Eero), Kanoni, S. (Stavroula), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Luan, J. (Jian'An), Mägi, R. (Reedik), Mahajan, A. (Anubha), Mangino, M. (Massimo), Medina-Gomez, M.C. (Carolina), Monda, K.L. (Keri), Nolte, I.M. (Ilja), Perusse, L. (Louis), Prokopenko, I. (Inga), Qi, L. (Lu), Rose, L.M. (Lynda), Salvi, E. (Erika), Smith, M.T. (Megan T.), Snieder, H. (Harold), Standáková, A. (Alena), Ju Sung, Y. (Yun), Tachmazidou, I. (Ioanna), Teumer, A. (Alexander), Thorleifsson, G. (Gudmar), Harst, P. (Pim) van der, Walker, R.W. (Ryan W.), Wang, S.R. (Sophie), Wild, S.H. (Sarah), Willems, S.M. (Sara), Wong, A. (Andrew), Zhang, W. (Weihua), Albrecht, E. (Eva), Couto-Alves, A. (Alexessander), Bakker, S.J.L. (Stephan), Barlassina, C. (Cristina), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bellis, C. (Claire), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Blangero, J. (John), Blüher, M. (Matthias), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan R.), Bruinenberg, M. (M.), Campbell, H. (Harry), Chen, Y.-D.I. (Yii-Der Ida), Chiang, C.W.K. (Charleston W. K.), Chines, P.S. (Peter), Collins, F.S. (Francis), Cucca, F. (Fracensco), Cupples, L.A. (Adrienne), D'avila, F. (Francesca), Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Dimitriou, M. (Maria), Döring, A. (Angela), Hagen, K. (Knut), Farmaki, A.-E. (Aliki-Eleni), Farrall, M. (Martin), Ferreira, T. (Teresa), Fischer, K. (Krista), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gjesing, A.P. (Anette), Glorioso, N. (Nicola), Graff, M.J. (Maud J.L.), Grallert, H. (Harald), Grarup, N. (Niels), Gräßler, J. (Jürgen), Grewal, J. (Jagvir), Hamsten, A. (Anders), Harder, M.N. (Marie Neergaard), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Havulinna, A.S. (Aki), Heliovaara, M. (Markku), Hillege, H.L. (Hans), Hofman, A. (Albert), Holmen, O.L. (Oddgeir), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Hui, J. (Jennie), Husemoen, L.L.N. (Lise Lotte), Hysi, P.G. (Pirro), Isaacs, A.J. (Aaron), Ittermann, T. (Till), Jalilzadeh, S. (Shapour), James, A. (Alan), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Marie Justesen, J. (Johanne), Justice, A.E. (Anne), Kähönen, M. (Mika), Karaleftheri, M. (Maria), Tee Khaw, K. (Kay), Keinanen-Kiukaanniemi, S. (Sirkka), Kinnunen, L. (Leena), Knekt, P., Koistinen, H. (Heikki), Kolcic, I. (Ivana), Kooner, I.K. (Ishminder K.), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kyriakou, T. (Theodosios), Laitinen, T. (Tomi), Langenberg, C. (Claudia), Lewin, A. (Alex), Lichtner, P. (Peter), Lindgren, C.M. (Cecilia), Lindström, J. (Jaana), Linneberg, A. (Allan), Lorbeer, R. (Roberto), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Manunta, P. (Paolo), Leach, I.M. (Irene Mateo), McArdle, W.L. (Wendy), Mcknight, B. (Barbara), Mohlke, K.L. (Karen), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Montasser, M.E. (May E.), Morris, A.P. (Andrew), Müller, G. (Gabriele), Musk, A.W. (Arthur W.), Narisu, N. (Narisu), Ong, K.K. (Ken K.), Oostra, B.A. (Ben), Osmond, C. (Clive), Palotie, A. (Aarno), Pankow, J.S. (James), Paternoster, L. (Lavinia), Penninx, B.W.J.H. (Brenda), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C., Rayner, N.W. (Nigel William), Ribel-Madsen, R. (Rasmus), Rice, T.K. (Treva K.), Richards, M. (Marcus), Ridker, P.M. (Paul), Rivadeneira Ramirez, F. (Fernando), Ryan, K.A. (Kathy A.), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Sebert, S. (Sylvain), Southam, L. (Lorraine), Sparsø, T. (Thomas), Steinthorsdottir, V. (Valgerdur), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Stringham, H.M. (Heather), Swertz, M. (Morris), Swift, A.J. (Amy), Tönjes, A. (Anke), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Vartiainen, E. (Erkki), Venturini, C. (Cristina), Verweij, N. (Niek), Viikari, J. (Jorma), Vitart, V. (Veronique), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waeber, G. (Gérard), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Winkler, T.W. (Thomas W.), Wright, A.F. (Alan), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Zillikens, M.C. (Carola), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Chambers, J.C. (John), Chasman, D.I. (Daniel), Cusi, D. (Daniele), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Hansen, T. (T.), Hicks, A.A. (Andrew), Hu, F. (Frank), Hveem, K. (Kristian), Jarvelin, M.-R. (Marjo-Riitta), Kajantie, E. (Eero), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Kuusisto, J. (Johanna), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Metspalu, A. (Andres), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Palmer, L.J. (Lyle J.), Pedersen, O. (Oluf), Perola, M. (Markus), Peters, A. (Annette), Psaty, B.M. (Bruce), Puolijoki, H. (Hannu), Rauramaa, R. (Rainer), Rudan, I. (Igor), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Shudiner, A.R. (Alan R.), Smit, J.H. (Jan), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Stumvoll, M. (Michael), Tremblay, A. (Angelo), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Völker, U. (Uwe), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Zeggini, E. (Eleftheria), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Duijn, C.M. (Cornelia) van, Fox, C.S. (Caroline), Groop, L. (Leif), Heid, I.M. (Iris), Hunter, D.J. (David J.), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark), North, K.E. (Kari), O´Connell, J.R., Schlessinger, D. (David), Thorsteinsdottir, U. (Unnur), Strachan, D.P. (David), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Müller-Nurasyid, M. (Martina), Loos, R.J.F. (Ruth), Ried, J.S. (Janina), Jeff, J. (Janina), Chu, A.Y. (Audrey Y), Bragg-Gresham, J.L. (Jennifer L.), Dongen, J. (Jenny) van, Huffman, J.E. (Jennifer), Ahluwalia, T.S. (Tarunveer Singh), Cadby, G. (Gemma), Eklund, N. (Niina), Eriksson, J. (Joel), Esko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Gorski, M. (Mathias), Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Jackson, A.U. (Anne), Jokinen, E. (Eero), Kanoni, S. (Stavroula), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lahti, J. (Jari), Luan, J. (Jian'An), Mägi, R. (Reedik), Mahajan, A. (Anubha), Mangino, M. (Massimo), Medina-Gomez, M.C. (Carolina), Monda, K.L. (Keri), Nolte, I.M. (Ilja), Perusse, L. (Louis), Prokopenko, I. (Inga), Qi, L. (Lu), Rose, L.M. (Lynda), Salvi, E. (Erika), Smith, M.T. (Megan T.), Snieder, H. (Harold), Standáková, A. (Alena), Ju Sung, Y. (Yun), Tachmazidou, I. (Ioanna), Teumer, A. (Alexander), Thorleifsson, G. (Gudmar), Harst, P. (Pim) van der, Walker, R.W. (Ryan W.), Wang, S.R. (Sophie), Wild, S.H. (Sarah), Willems, S.M. (Sara), Wong, A. (Andrew), Zhang, W. (Weihua), Albrecht, E. (Eva), Couto-Alves, A. (Alexessander), Bakker, S.J.L. (Stephan), Barlassina, C. (Cristina), Bartz, T.M. (Traci M.), Beilby, J.P. (John), Bellis, C. (Claire), Bergman, R.N. (Richard N.), Bergmann, S.M. (Sven), Blangero, J. (John), Blüher, M. (Matthias), Boerwinkle, E.A. (Eric), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan R.), Bruinenberg, M. (M.), Campbell, H. (Harry), Chen, Y.-D.I. (Yii-Der Ida), Chiang, C.W.K. (Charleston W. K.), Chines, P.S. (Peter), Collins, F.S. (Francis), Cucca, F. (Fracensco), Cupples, L.A. (Adrienne), D'avila, F. (Francesca), Geus, E.J.C. (Eco) de, Dedoussis, G.V. (George), Dimitriou, M. (Maria), Döring, A. (Angela), Hagen, K. (Knut), Farmaki, A.-E. (Aliki-Eleni), Farrall, M. (Martin), Ferreira, T. (Teresa), Fischer, K. (Krista), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gjesing, A.P. (Anette), Glorioso, N. (Nicola), Graff, M.J. (Maud J.L.), Grallert, H. (Harald), Grarup, N. (Niels), Gräßler, J. (Jürgen), Grewal, J. (Jagvir), Hamsten, A. (Anders), Harder, M.N. (Marie Neergaard), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Havulinna, A.S. (Aki), Heliovaara, M. (Markku), Hillege, H.L. (Hans), Hofman, A. (Albert), Holmen, O.L. (Oddgeir), Homuth, G. (Georg), Hottenga, J.J. (Jouke Jan), Hui, J. (Jennie), Husemoen, L.L.N. (Lise Lotte), Hysi, P.G. (Pirro), Isaacs, A.J. (Aaron), Ittermann, T. (Till), Jalilzadeh, S. (Shapour), James, A. (Alan), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Marie Justesen, J. (Johanne), Justice, A.E. (Anne), Kähönen, M. (Mika), Karaleftheri, M. (Maria), Tee Khaw, K. (Kay), Keinanen-Kiukaanniemi, S. (Sirkka), Kinnunen, L. (Leena), Knekt, P., Koistinen, H. (Heikki), Kolcic, I. (Ivana), Kooner, I.K. (Ishminder K.), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kyriakou, T. (Theodosios), Laitinen, T. (Tomi), Langenberg, C. (Claudia), Lewin, A. (Alex), Lichtner, P. (Peter), Lindgren, C.M. (Cecilia), Lindström, J. (Jaana), Linneberg, A. (Allan), Lorbeer, R. (Roberto), Lorentzon, M. (Mattias), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Manunta, P. (Paolo), Leach, I.M. (Irene Mateo), McArdle, W.L. (Wendy), Mcknight, B. (Barbara), Mohlke, K.L. (Karen), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Montasser, M.E. (May E.), Morris, A.P. (Andrew), Müller, G. (Gabriele), Musk, A.W. (Arthur W.), Narisu, N. (Narisu), Ong, K.K. (Ken K.), Oostra, B.A. (Ben), Osmond, C. (Clive), Palotie, A. (Aarno), Pankow, J.S. (James), Paternoster, L. (Lavinia), Penninx, B.W.J.H. (Brenda), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rao, D.C., Rayner, N.W. (Nigel William), Ribel-Madsen, R. (Rasmus), Rice, T.K. (Treva K.), Richards, M. (Marcus), Ridker, P.M. (Paul), Rivadeneira Ramirez, F. (Fernando), Ryan, K.A. (Kathy A.), Sanna, S. (Serena), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Sebert, S. (Sylvain), Southam, L. (Lorraine), Sparsø, T. (Thomas), Steinthorsdottir, V. (Valgerdur), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Stringham, H.M. (Heather), Swertz, M. (Morris), Swift, A.J. (Amy), Tönjes, A. (Anke), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Vartiainen, E. (Erkki), Venturini, C. (Cristina), Verweij, N. (Niek), Viikari, J. (Jorma), Vitart, V. (Veronique), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waeber, G. (Gérard), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Winkler, T.W. (Thomas W.), Wright, A.F. (Alan), Yerges-Armstrong, L.M. (Laura), Zhao, J.H. (Jing Hua), Zillikens, M.C. (Carola), Boomsma, D.I. (Dorret), Bouchard, C. (Claude), Chambers, J.C. (John), Chasman, D.I. (Daniel), Cusi, D. (Daniele), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Hansen, T. (T.), Hicks, A.A. (Andrew), Hu, F. (Frank), Hveem, K. (Kristian), Jarvelin, M.-R. (Marjo-Riitta), Kajantie, E. (Eero), Kooner, J.S. (Jaspal S.), Kuh, D. (Diana), Kuusisto, J. (Johanna), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Metspalu, A. (Andres), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Palmer, L.J. (Lyle J.), Pedersen, O. (Oluf), Perola, M. (Markus), Peters, A. (Annette), Psaty, B.M. (Bruce), Puolijoki, H. (Hannu), Rauramaa, R. (Rainer), Rudan, I. (Igor), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Shudiner, A.R. (Alan R.), Smit, J.H. (Jan), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Stumvoll, M. (Michael), Tremblay, A. (Angelo), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Völker, U. (Uwe), Vollenweider, P. (Peter), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Zeggini, E. (Eleftheria), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Duijn, C.M. (Cornelia) van, Fox, C.S. (Caroline), Groop, L. (Leif), Heid, I.M. (Iris), Hunter, D.J. (David J.), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark), North, K.E. (Kari), O´Connell, J.R., Schlessinger, D. (David), Thorsteinsdottir, U. (Unnur), Strachan, D.P. (David), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Müller-Nurasyid, M. (Martina), and Loos, R.J.F. (Ruth)
Abstract: Large consortia have revealed hundreds of genetic loci associated with anthropometric traits, one trait at a time. We examined whether genetic variants affect body shape as a composite phenotype that is represented by a combination of anthropometric traits. We developed an approach that calculates averaged PCs (AvPCs) representing body shape derived from six anthropometric traits (body mass index, height, weight, waist and hip circumference, waist-to-hip ratio). The first four AvPCs explain >99% of the variability, are heritable, and associate with cardiometabolic outcomes. We performed genome-wide association analyses for each body shape composite phenotype across 65 studies and meta-analysed summary statistics. We identify six novel loci: LEMD2 and CD47 for AvPC1, RPS6KA5/C14orf159 and GANAB for AvPC3, and ARL15 and ANP32 for AvPC4. Our findings highlight the value of using multiple traits to define complex phenotypes for discovery, which are not captured by single-trait analyses, and may shed light onto new pathways.
Published: 2016
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11. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Author: Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. (Devin), Ahluwalia, T.S. (Tarunveer Singh), Ahmad, S. (Shafqat), Albrecht, E. (Eva), Alves, A.C. (Alexessander Couto), Bragg-Gresham, J.L. (Jennifer L.), Craen, A.J. (Anton) de, Bis, J.C. (Joshua), Bonnefond, A. (Amélie), Boucher, G. (Gabrielle), Cadby, G. (Gemma), Cheng, Y.-C. (Yu-Ching), Chiang, C.W. (Charleston W K), Delgado, G., Demirkan, A. (Ayşe), Dueker, N. (Nicole), Eklund, N. (Niina), Eiriksdottir, G. (Gudny), Eriksson, J. (Joel), Feenstra, B. (Bjarke), Fischer, K. (Krista), Frau, F. (Francesca), Galesloot, T.E. (Tessel), Geller, F. (Frank), Goel, A. (Anuj), Gorski, M. (Mathias), Grammer, T.B. (Tanja), Gustafsson, S. (Stefan), Haitjema, S. (Saskia), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Jacobs, K.B. (Kevin), Johansson, A. (Åsa), Kaakinen, M. (Marika), Kleber, M.E. (Marcus), Lahti, J. (Jari), Leach, I.M. (Irene Mateo), Lehne, B. (Benjamin), Liu, Y. (Youfang), Lo, K.S., Lorentzon, M. (Mattias), Luan, J. (Jian'An), Madden, P.A. (Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark I.), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia M.), Heid, I.M. (Iris), North, K.E. (Kari), Borecki, I.B. (Ingrid), Kutalik, Z. (Zoltán), Loos, R.J.F. (Ruth), Winkler, T.W. (Thomas W.), Justice, A.E. (Anne), Graff, M.J. (Maud J.L.), Barata, L. (Llilda), Feitosa, M.F. (Mary Furlan), Chu, S. (Su), Czajkowski, J. (Jacek), Esko, T. (Tõnu), Fall, M. (Magnus), Kilpeläinen, T.O. (Tuomas), Lu, Y. (Yingchang), Mägi, R. (Reedik), Mihailov, E. (Evelin), Pers, T.H. (Tune), Rüeger, S. (Sina), Teumer, A. (Alexander), Ehret, G.B. (Georg), Ferreira, T. (Teresa), Heard-Costa, N.L. (Nancy), Karjalainen, J. (Juha), Lagou, V. (Vasiliki), Mahajan, A. (Anubha), Neinast, M.D. (Michael D.), Prokopenko, I. (Inga), Simino, J. (Jeannette), Teslovich, T.M. (Tanya M.), Jansen, R., Westra, H.J. (Harm-Jan), White, C.C. (Charles), Absher, D. (Devin), Ahluwalia, T.S. (Tarunveer Singh), Ahmad, S. (Shafqat), Albrecht, E. (Eva), Alves, A.C. (Alexessander Couto), Bragg-Gresham, J.L. (Jennifer L.), Craen, A.J. (Anton) de, Bis, J.C. (Joshua), Bonnefond, A. (Amélie), Boucher, G. (Gabrielle), Cadby, G. (Gemma), Cheng, Y.-C. (Yu-Ching), Chiang, C.W. (Charleston W K), Delgado, G., Demirkan, A. (Ayşe), Dueker, N. (Nicole), Eklund, N. (Niina), Eiriksdottir, G. (Gudny), Eriksson, J. (Joel), Feenstra, B. (Bjarke), Fischer, K. (Krista), Frau, F. (Francesca), Galesloot, T.E. (Tessel), Geller, F. (Frank), Goel, A. (Anuj), Gorski, M. (Mathias), Grammer, T.B. (Tanja), Gustafsson, S. (Stefan), Haitjema, S. (Saskia), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jackson, A.U. (Anne), Jacobs, K.B. (Kevin), Johansson, A. (Åsa), Kaakinen, M. (Marika), Kleber, M.E. (Marcus), Lahti, J. (Jari), Leach, I.M. (Irene Mateo), Lehne, B. (Benjamin), Liu, Y. (Youfang), Lo, K.S., Lorentzon, M. (Mattias), Luan, J. (Jian'An), Madden, P.A. (Pamela), Mangino, M. (Massimo), McKnight, B. (Barbara), Medina-Gomez, C. (Carolina), Monda, K.L. (Keri), Montasser, M.E. (May E.), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nolte, I.M. (Ilja), Panoutsopoulou, K. (Kalliope), Pascoe, L. (Laura), Paternoster, L. (Lavinia), Rayner, N.W. (Nigel William), Renström, F. (Frida), Rizzi, F. (Federica), Rose, L.M. (Lynda), Ryan, K.A. (Kathy A.), Salo, P. (Perttu), Sanna, S. (Serena), Scharnagl, H. (Hubert), Shi, J. (Jianxin), Smith, A.V. (Albert Vernon), Southam, L. (Lorraine), Stancáková, A. (Alena), Steinthorsdottir, V. (Valgerdur), Strawbridge, R.J. (Rona), Sung, Y.J. (Yun Ju), Tachmazidou, I. (Ioanna), Tanaka, T. (Toshiko), Thorleifsson, G. (Gudmar), Trompet, S. (Stella), Pervjakova, N. (Natalia), Tyrer, J.P. (Jonathan), Vandenput, L. (Liesbeth), Van Der Laan, S.W. (Sander W.), Velde, N. (Nathalie) van der, Setten, J. (Jessica) van, Vliet-Ostaptchouk, J.V. (Jana) van, Verweij, N. (Niek), Vlachopoulou, E. (Efthymia), Waite, L. (Lindsay), Wang, S.R. (Sophie), Wang, Z. (Zhaoming), Wild, S.H. (Sarah), Willenborg, C. (Christina), Wilson, J.F. (James), Wong, A. (Andrew), Yang, J. (Jian), Yengo, L. (Loic), Yerges-Armstrong, L.M. (Laura), Yu, L. (Lei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Andersson, E.A. (Ehm Astrid), Bakker, S.J.L. (Stephan), Baldassarre, D. (Damiano), Banasik, K. (Karina), Barcella, M. (Matteo), Barlassina, C. (Cristina), Bellis, C. (Claire), Benaglio, P. (Paola), Blangero, J. (John), Blüher, M. (Matthias), Bonnet, F. (Fabrice), Bonnycastle, L.L. (Lori), Boyd, H.A. (Heather), Bruinenberg, M. (M.), Buchman, A.S. (Aron S.), Campbell, H. (Harry), Chen, Y.D. (Y.), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Cole, J.W. (John W.), Collins, F.S. (Francis), Geus, E.J.C. (Eco) de, Groot, L.C.P.G.M. (Lisette) de, Dimitriou, M. (Maria), Duan, J. (Jubao), Enroth, S. (Stefan), Eury, E. (Elodie), Farmaki, A.-E. (Aliki-Eleni), Forouhi, N.G. (Nita), Friedrich, N. (Nele), Gejman, P.V. (Pablo), Gigante, B. (Bruna), Glorioso, N. (Nicola), Go, A.T.J.I. (Attie), Gottesman, R.F. (Rebecca), Gräßler, J. (Jürgen), Grallert, H. (Harald), Grarup, N. (Niels), Gu, Y.-M. (Yu-Mei), Broer, L. (Linda), Ham, A.C. (Annelies), Hansen, T. (T.), Harris, T.B. (Tamara), Hartman, C.A. (Catharina A.), Hassinen, M. (Maija), Hastie, N. (Nick), Hattersley, A.T. (Andrew), Heath, A.C. (Andrew), Henders, A.K. (Anjali), Hernandez, D.G. (Dena), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Hui, J. (Jennie), Husemoen, L.L. (Lise L.), Hutri-Kähönen, N. (Nina), Hysi, P.G. (Pirro), Illig, T. (Thomas), Jager, P.L. (Philip) de, Jalilzadeh, S. (Shapour), Jorgensen, T. (Torben), Jukema, J.W. (Jan Wouter), Juonala, M. (Markus), Kanoni, S. (Stavroula), Karaleftheri, M. (Maria), Khaw, K.T., Kinnunen, L. (Leena), Kittner, T. (Thomas), Koenig, W. (Wolfgang), Kolcic, I. (Ivana), Kovacs, P. (Peter), Krarup, N.T. (Nikolaj T.), Kratzer, W. (Wolfgang), Krüger, J. (Janine), Kuh, D. (Diana), Kumari, M. (Meena), Kyriakou, T. (Theodosios), Langenberg, C. (Claudia), Lannfelt, L. (Lars), Lanzani, C. (Chiara), Lotay, V. (Vaneet), Launer, L.J. (Lenore), Leander, K. (Karin), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y.-P. (Yan-Ping), Lobbens, S. (Stéphane), Luben, R.N. (Robert), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Magnusson, P.K. (Patrik), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Milani, L. (Lili), Montgomery, G.W. (Grant W.), Morris, A.P. (Andrew), Narisu, N. (Narisu), Nelis, M. (Mari), Ong, K.K. (Ken), Palotie, A. (Aarno), Perusse, L. (Louis), Pichler, I. (Irene), Pilia, M.G. (Maria Grazia), Pouta, A. (Anneli), Rheinberger, M. (Myriam), Ribel-Madsen, R. (Rasmus), Richards, M. (Marcus), Rice, K.M. (Kenneth), Rice, T.K. (Treva K.), Rivolta, C. (Carlo), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sarzynski, M.A. (Mark A.), Scholtens, S. (Salome), Scott, R.A. (Robert), Scott, W.R. (William R.), Sebert, S. (Sylvain), Sengupta, S. (Sebanti), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Silveira, A. (Angela), Slagboom, P.E. (Eline), Smit, J.H. (Jan), Sparsø, T. (Thomas), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stringham, H.M. (Heather), Swertz, M.A. (Morris A.), Swift, A.J. (Amy), Syvänen, A.C., Tan, S.-T. (Sian-Tsung), Thorand, B. (Barbara), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tsafantakis, E. (Emmanouil), Most, P.J. (Peter) van der, Völker, U. (Uwe), Vohl, M.-C. (Marie-Claude), Vonk, J.M. (Judith), Waldenberger, M. (Melanie), Walker, R.W. (Ryan W.), Wennauer, R. (Roman), Widen, E., Willemsen, G.A.H.M. (Gonneke), Wilsgaard, T. (Tom), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Van Dijk, S. (Suzanne), Schoor, N.M. (Natasja) van, Asselbergs, F.W. (Folkert), Bakker, P.I.W. (Paul) de, Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bennett, D.A. (David A.), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Böger, C.A. (Carsten), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Bornstein, S.R. (Stefan), Bottinger, E.P. (Erwin), Bouchard, C. (Claude), Chambers, J.C. (John), Chanock, S.J. (Stephen), Chasman, D.I. (Daniel), Cucca, F. (Francesco), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Hagen, K. (Knut), Evans, D., Faire, U. (Ulf) de, Farrall, M. (Martin), Ferrucci, L. (Luigi), Ford, I. (Ian), Franke, L. (Lude), Franks, P.W. (Paul), Froguel, P. (Philippe), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hall, P. (Per), Hamsten, A. (Anders), Harst, P. (Pim) van der, Hayward, C. (Caroline), Heliovaara, M. (Markku), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hofman, A. (Albert), Hu, F. (Frank), Huikuri, H.V. (Heikki), Hveem, K. (Kristian), James, A. (Alan), Jordan, J.M. (Joanne M.), Jula, A. (Antti), Kähönen, M. (Mika), Kajantie, E. (Eero), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kivimaki, M. (Mika), Knekt, P., Koistinen, H. (Heikki), Kooner, J.S. (Jaspal S.), Koskinen, S. (Seppo), Kuusisto, J. (Johanna), Maerz, W. (Winfried), Martin, N.G. (Nicholas), Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Levinson, D.F. (Douglas), Kao, W.H.L. (Wen), Lokki, M.L., Mäntyselkä, P. (Pekka), Melbye, M. (Mads), Metspalu, A. (Andres), Mitchell, B.D. (Braxton), Moll, F.L. (Frans), Murray, J.C. (Jeffrey), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Oostra, B.A. (Ben), Palmer, C. (Cameron), Pankow, J.S. (James), Pasterkamp, G. (Gerard), Pedersen, N.L. (Nancy), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Peters, A. (Annette), Polasek, O. (Ozren), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce M.), Qi, L. (Lu), Quertermous, T. (Thomas), Raitakari, O.T. (Olli T.), Rankinen, T. (Tuomo), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Rioux, J.D. (John), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Rudan, I. (Igor), Ruijter, H.M. (Hester ) den, Saltevo, J. (Juha), Sattar, N. (Naveed), Schunkert, H. (Heribert), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Sinisalo, J. (Juha), Snieder, H. (Harold), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Staessen, J.A. (Jan A.), Stefania, B. (Bandinelli), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tardif, J.-C. (Jean-Claude), Tremoli, E. (Elena), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Verbeek, A.L.M., Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Vitart, V. (Veronique), Völzke, H. (Henry), Vollenweider, P. (Peter), Waeber, G. (Gérard), Walker, M. (Mark), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Zeggini, E. (Eleftheria), Chakravarti, A. (Aravinda), Clegg, D.J. (Deborah J.), Cupples, L.A. (Adrienne), Gordon-Larsen, P. (Penny), Jaquish, C.E. (Cashell), Rao, D.C. (Dabeeru C.), Abecasis, G.R. (Goncalo R.), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), McCarthy, M.I. (Mark I.), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia M.), Heid, I.M. (Iris), North, K.E. (Kari), Borecki, I.B. (Ingrid), Kutalik, Z. (Zoltán), and Loos, R.J.F. (Ruth)
Abstract: Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men ≤50y, men >50y, women ≤50y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (≥50y). No sex-dependent effects were identified for B
Published: 2015
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12. New genetic loci link adipose and insulin biology to body fat distribution

Author: Shungin, D. (Dmitry), Winkler, T.W. (Thomas W.), Croteau-Chonka, D.C. (Damien), Ferreira, T. (Teresa), Locke, A. (Adam), Mägi, R. (Reedik), Strawbridge, R.J. (Rona), Pers, T.H. (Tune), Fischer, K. (Krista), Justice, A.E. (Anne), Workalemahu, T. (Tsegaselassie), Wu, J.M.W. (Joseph M. W.), Buchkovich, M.L. (Martin), Heard-Costa, N.L. (Nancy), Roman, T.S. (Tamara S.), Drong, A. (Alexander), Song, C. (Ci), Gustafsson, S. (Stefan), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Kutalik, Z. (Zolta'n), Luan, J., Randall, J.C. (Joshua), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Chen, J. (Jin), Fehrmann, R.S.N. (Rudolf), Karjalainen, J. (Juha), Kahali, B. (Bratati), Liu, C.-T. (Ching-Ti), Schmidt, E.M. (Ellen), Absher, D. (Devin), Amin, N. (Najaf), Beekman, M. (Marian), Bragg-Gresham, J.L. (Jennifer L.), Buyske, S. (Steven), Demirkan, A. (Ayşe), Ehret, G.B. (Georg), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Jackson, A.U. (Anne), Johnson, T. (Toby), Kleber, M.E. (Marcus), Kristiansson, K. (Kati), Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medina-Gomez, M.C. (Carolina), Palmer, C. (Cameron), Pasko, D. (Dorota), Pechlivanis, S. (Sonali), Peters, M.J. (Marjolein), Prokopenko, I. (Inga), Stanca'kova', A. (Alena), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Vliet-Ostaptchouk, J.V. (Jana) van, Yengo, L. (Loic), Zhang, W. (Weihua), Albrecht, E. (Eva), Ärnlöv, J. (Johan), Arscott, G.M. (Gillian M.), Bandinelli, S. (Stefania), Barrett, A. (Angela), Bellis, C. (Claire), Bennett, A.J. (Amanda), Berne, C. (Christian), Blüher, M. (Matthias), Böhringer, S. (Stefan), Bonnet, F. (Fabrice), Böttcher, Y. (Yvonne), Bruinenberg, M. (M.), Carba, D.B. (Delia B.), Caspersen, I.H. (Ida H.), Clarke, R. (Robert), Daw, E.W. (E. Warwick), Deelen, J. (Joris), Deelman, E. (Ewa), Delgado, G., Doney, A.S.F. (Alex), Eklund, N. (Niina), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Eury, E. (Elodie), Friedrich, N. (Nele), Garcia, M. (Melissa), Giedraitis, V. (Vilmantas), Gigante, B. (Bruna), Go, A.T.J.I. (Attie), Golay, A. (Alain), Grallert, H. (Harald), Grammer, T.B. (Tanja), Gräsler, J. (Jürgen), Grewal, J. (Jagvir), Groves, C.J. (Christopher), Haller, T. (Toomas), Hallmans, G. (Göran), Hartman, C.A. (Catharina), Hassinen, M. (Maija), Hayward, C. (Caroline), Heikkilä, K. (Kauko), Herzig, K.H., Helmer, Q. (Quinta), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hunt, S.C. (Steven), Isaacs, A. (Aaron), Ittermann, T. (Till), James, A.L. (Alan), Johansson, I. (Inger), Juliusdottir, T. (Thorhildur), Kalafati, I.-P. (Ioanna-Panagiota), Kinnunen, L. (Leena), Koenig, W. (Wolfgang), Kooner, I.K. (Ishminder K.), Kratzer, W. (Wolfgang), Lamina, C. (Claudia), Leander, K. (Karin), Lee, N.R. (Nanette R.), Lichtner, P. (Peter), Lind, L. (Lars), Lindström, J. (Jaana), Lobbens, S. (Stéphane), Lorentzon, M. (Mattias), MacH, F. (François), Magnusson, P.K. (Patrik), Mahajan, A. (Anubha), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Moayyeri, A. (Alireza), Monda, K.L. (Keri), Mooijaart, S.P. (Simon), Mühleisen, T.W. (Thomas), Mulas, A. (Antonella), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nagaraja, R. (Ramaiah), Nalls, M.A. (Michael), Narisu, N. (Narisu), Glorioso, N. (Nicola), Nolte, I.M. (Ilja M.), Olden, M. (Matthias), Rayner, N.W. (Nigel William), Renström, F. (Frida), Ried, J.S. (Janina), Robertson, N.R. (Neil R.), Rose, L.M. (Lynda), Sanna, S. (Serena), Scharnagl, H. (Hubert), Scholtens, S. (Salome), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Sitlani, C.M. (Colleen), Smith, A.V. (Davey), Stirrups, K. (Kathy), Stringham, H.M. (Heather), Sundstrom, J. (Johan), Swertz, M. (Morris), Swift, A.J. (Amy), Syvanen, A.C., Tayo, B. (Bamidele), Thorand, B. (Barbara), Thorleifsson, G. (Gudmar), Tomaschitz, A. (Andreas), Troffa, C. (Chiara), Oort, F.V.A. (Floor) van, Verweij, N. (Niek), Vonk, J.M. (Judith), Waite, L. (Lindsay), Wennauer, R. (Roman), Wilsgaard, T. (Tom), Wojczynski, M.K. (Mary ), Wong, A. (Andrew), Zhang, Q. (Qunyuan), Zhao, J.H. (Jing Hua), Brennan, E.P. (Eoin P.), Choi, M. (Murim), Eriksson, P. (Per), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Gharavi, A.G. (Ali G.), Hedman, A.K. (Asa), Hivert, M.-F. (Marie-France), Huang, J. (Jinyan), Kanoni, S. (Stavroula), Karpe, F. (Fredrik), Keildson, S. (Sarah), Kiryluk, K. (Krzysztof), Liang, L. (Liming), Lifton, R.P. (Richard), Ma, B. (Baoshan), McKnight, A.J. (Amy J.), McPherson, R. (Ruth), Metspalu, A. (Andres), Min, J.L. (Josine L.), Moffatt, M.F. (Miriam), Montgomery, G.W. (Grant), Murabito, J. (Joanne), Nicholson, G. (Ggeorge), Dimas, A.S. (Antigone), Olsson, C. (Christian), Perry, J.R.B. (John), Reinmaa, E. (Eva), Salem, R.M. (Rany), Sandholm, N. (Niina), Schadt, E.E. (Eric), Scott, R.A. (Robert), Stolk, L. (Lisette), Vallejo, E.E. (Edgar E.), Westra, H.J. (Harm-Jan), Zondervan, K.T. (Krina), Amouyel, P. (Philippe), Arveiler, D. (Dominique), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Bergman, R.N. (Richard), Blangero, J. (John), Brown, M.J. (Morris), Burnier, M. (Michel), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Collins, F.S. (Francis), Crawford, D.C. (Dana), Danesh, J. (John), Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Dörr, M. (Marcus), Erbel, R. (Raimund), Hagen, K. (Knut), Farrall, M. (Martin), Ferrannini, E. (Ele), Ferrieres, J. (Jean), Forouhi, N.G. (Nita), Forrester, T. (Terrence), Franco, O.H. (Oscar), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Heliovaara, M. (Markku), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Homuth, G. (Georg), Humphries, S.E. (Steve), Hypponen, E. (Elina), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Johansen, B. (Berit), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaprio, J. (Jaakko), Kee, F. (F.), Keinanen-Kiukaanniemi, S. (Sirkka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Le Marchand, L. (Loic), Lehtimäki, T. (Terho), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Marette, A. (Andre'), Matise, T.C. (Tara C.), McKenzie, C.A. (Colin A.), McKnight, B. (Barbara), Musk, A.W. (Arthur), Möhlenkamp, S. (Stefan), Morris, A.D. (Andrew), Nelis, M. (Mari), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ong, K.K. (Ken K.), Penninx, B.W.J.H. (Brenda), Peters, A. (Annette), Pramstaller, P.P. (Peter Paul), Raitakari, O. (Olli), Rankinen, T. (Tuomo), Rao, D.C. (Dabeeru C.), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Ritchie, M.D. (Marylyn D.), Rudan, I. (Igor), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sarzynski, M.A. (Mark A.), Schwarz, P.E.H. (Peter E. H.), Shuldiner, A.R. (Alan), Staessen, J.A. (Jan), Steinthorsdottir, V. (Valgerdur), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tremoli, E. (Elena), Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Vollenweider, P. (Peter), Wilson, J.F. (James F), Witteman, J.C.M. (Jacqueline), Adair, L.S. (Linda), Bochud, M. (Murielle), Boehm, B.O. (Bernhard), Bornstein, S.R. (Stefan R.), Bouchard, C. (Claude), Cauchi, S. (Ste'phane), Caulfield, M. (Mark), Chambers, J.C. (John C.), Chasman, D.I. (Daniel), Cooper, R.S. (Richard S.), Dedoussis, G.V. (George), Ferrucci, L. (Luigi), Froguel, P. (Philippe), Grabe, H.J. (Hans Jörgen), Hamsten, A. (Anders), Hui, J. (Jennie), Hveem, K. (Kristian), Jöckel, K.-H. (Karl-Heinz), Kivimaki, M. (Mika), Kuh, D. (Diana), Laakso, M. (Markku), Liu, Y. (YongMei), März, W. (Winfried), Munroe, P. (Patricia), Njølstad, I. (Inger), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Pedersen, N.L. (Nancy L.), Perola, M. (Markus), Perusse, L. (Louis), Peters, U. (Ulrike), Power, C. (Christopher), Quertermous, T. (Thomas), Rauramaa, R. (Rainer), Rivadeneira Ramirez, F. (Fernando), Saaristo, T. (Timo), Saleheen, D., Sinisalo, J. (Juha), Slagboom, P.E. (Eline), Snieder, H. (Harold), Spector, T.D. (Timothy), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Veronesi, G. (Giovanni), Walker, M. (Mark), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Franke, L. (Lude), Frayling, T.M. (Timothy), Groop, L. (Leif), Hunter, D. (David), Kaplan, R.C. (Robert), O´Connell, J.R., Qi, L. (Lu), Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Willer, C.J. (Cristen), Visscher, P.M. (Peter), Yang, J. (Joanna), Hirschhorn, J.N. (Joel N.), Zillikens, M.C. (Carola), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Fox, C.S. (Caroline S.), Barroso, I.E. (Inês), Franks, P.W. (Paul), Anderson, D. (Denise), Ingelsson, E. (Erik), Heid, I.M. (Iris), Loos, R.J.F. (Ruth), Cupples, L.A. (Adrienne), Morris, A.P. (Andrew), Lindgren, C.M. (Cecilia), Mohlke, K.L. (Karen), Shungin, D. (Dmitry), Winkler, T.W. (Thomas W.), Croteau-Chonka, D.C. (Damien), Ferreira, T. (Teresa), Locke, A. (Adam), Mägi, R. (Reedik), Strawbridge, R.J. (Rona), Pers, T.H. (Tune), Fischer, K. (Krista), Justice, A.E. (Anne), Workalemahu, T. (Tsegaselassie), Wu, J.M.W. (Joseph M. W.), Buchkovich, M.L. (Martin), Heard-Costa, N.L. (Nancy), Roman, T.S. (Tamara S.), Drong, A. (Alexander), Song, C. (Ci), Gustafsson, S. (Stefan), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Kutalik, Z. (Zolta'n), Luan, J., Randall, J.C. (Joshua), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Chen, J. (Jin), Fehrmann, R.S.N. (Rudolf), Karjalainen, J. (Juha), Kahali, B. (Bratati), Liu, C.-T. (Ching-Ti), Schmidt, E.M. (Ellen), Absher, D. (Devin), Amin, N. (Najaf), Beekman, M. (Marian), Bragg-Gresham, J.L. (Jennifer L.), Buyske, S. (Steven), Demirkan, A. (Ayşe), Ehret, G.B. (Georg), Feitosa, M.F. (Mary Furlan), Goel, A. (Anuj), Jackson, A.U. (Anne), Johnson, T. (Toby), Kleber, M.E. (Marcus), Kristiansson, K. (Kati), Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medina-Gomez, M.C. (Carolina), Palmer, C. (Cameron), Pasko, D. (Dorota), Pechlivanis, S. (Sonali), Peters, M.J. (Marjolein), Prokopenko, I. (Inga), Stanca'kova', A. (Alena), Sung, Y.J. (Yun Ju), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Vliet-Ostaptchouk, J.V. (Jana) van, Yengo, L. (Loic), Zhang, W. (Weihua), Albrecht, E. (Eva), Ärnlöv, J. (Johan), Arscott, G.M. (Gillian M.), Bandinelli, S. (Stefania), Barrett, A. (Angela), Bellis, C. (Claire), Bennett, A.J. (Amanda), Berne, C. (Christian), Blüher, M. (Matthias), Böhringer, S. (Stefan), Bonnet, F. (Fabrice), Böttcher, Y. (Yvonne), Bruinenberg, M. (M.), Carba, D.B. (Delia B.), Caspersen, I.H. (Ida H.), Clarke, R. (Robert), Daw, E.W. (E. Warwick), Deelen, J. (Joris), Deelman, E. (Ewa), Delgado, G., Doney, A.S.F. (Alex), Eklund, N. (Niina), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Eury, E. (Elodie), Friedrich, N. (Nele), Garcia, M. (Melissa), Giedraitis, V. (Vilmantas), Gigante, B. (Bruna), Go, A.T.J.I. (Attie), Golay, A. (Alain), Grallert, H. (Harald), Grammer, T.B. (Tanja), Gräsler, J. (Jürgen), Grewal, J. (Jagvir), Groves, C.J. (Christopher), Haller, T. (Toomas), Hallmans, G. (Göran), Hartman, C.A. (Catharina), Hassinen, M. (Maija), Hayward, C. (Caroline), Heikkilä, K. (Kauko), Herzig, K.H., Helmer, Q. (Quinta), Hillege, H.L. (Hans), Holmen, O.L. (Oddgeir), Hunt, S.C. (Steven), Isaacs, A. (Aaron), Ittermann, T. (Till), James, A.L. (Alan), Johansson, I. (Inger), Juliusdottir, T. (Thorhildur), Kalafati, I.-P. (Ioanna-Panagiota), Kinnunen, L. (Leena), Koenig, W. (Wolfgang), Kooner, I.K. (Ishminder K.), Kratzer, W. (Wolfgang), Lamina, C. (Claudia), Leander, K. (Karin), Lee, N.R. (Nanette R.), Lichtner, P. (Peter), Lind, L. (Lars), Lindström, J. (Jaana), Lobbens, S. (Stéphane), Lorentzon, M. (Mattias), MacH, F. (François), Magnusson, P.K. (Patrik), Mahajan, A. (Anubha), McArdle, W.L. (Wendy), Menni, C. (Cristina), Merger, S. (Sigrun), Mihailov, E. (Evelin), Milani, L. (Lili), Mills, R. (Rebecca), Moayyeri, A. (Alireza), Monda, K.L. (Keri), Mooijaart, S.P. (Simon), Mühleisen, T.W. (Thomas), Mulas, A. (Antonella), Müller, G. (Gabriele), Müller-Nurasyid, M. (Martina), Nagaraja, R. (Ramaiah), Nalls, M.A. (Michael), Narisu, N. (Narisu), Glorioso, N. (Nicola), Nolte, I.M. (Ilja M.), Olden, M. (Matthias), Rayner, N.W. (Nigel William), Renström, F. (Frida), Ried, J.S. (Janina), Robertson, N.R. (Neil R.), Rose, L.M. (Lynda), Sanna, S. (Serena), Scharnagl, H. (Hubert), Scholtens, S. (Salome), Sennblad, B. (Bengt), Seufferlein, T. (Thomas), Sitlani, C.M. (Colleen), Smith, A.V. (Davey), Stirrups, K. (Kathy), Stringham, H.M. (Heather), Sundstrom, J. (Johan), Swertz, M. (Morris), Swift, A.J. (Amy), Syvanen, A.C., Tayo, B. (Bamidele), Thorand, B. (Barbara), Thorleifsson, G. (Gudmar), Tomaschitz, A. (Andreas), Troffa, C. (Chiara), Oort, F.V.A. (Floor) van, Verweij, N. (Niek), Vonk, J.M. (Judith), Waite, L. (Lindsay), Wennauer, R. (Roman), Wilsgaard, T. (Tom), Wojczynski, M.K. (Mary ), Wong, A. (Andrew), Zhang, Q. (Qunyuan), Zhao, J.H. (Jing Hua), Brennan, E.P. (Eoin P.), Choi, M. (Murim), Eriksson, P. (Per), Folkersen, L. (Lasse), Franco-Cereceda, A. (Anders), Gharavi, A.G. (Ali G.), Hedman, A.K. (Asa), Hivert, M.-F. (Marie-France), Huang, J. (Jinyan), Kanoni, S. (Stavroula), Karpe, F. (Fredrik), Keildson, S. (Sarah), Kiryluk, K. (Krzysztof), Liang, L. (Liming), Lifton, R.P. (Richard), Ma, B. (Baoshan), McKnight, A.J. (Amy J.), McPherson, R. (Ruth), Metspalu, A. (Andres), Min, J.L. (Josine L.), Moffatt, M.F. (Miriam), Montgomery, G.W. (Grant), Murabito, J. (Joanne), Nicholson, G. (Ggeorge), Dimas, A.S. (Antigone), Olsson, C. (Christian), Perry, J.R.B. (John), Reinmaa, E. (Eva), Salem, R.M. (Rany), Sandholm, N. (Niina), Schadt, E.E. (Eric), Scott, R.A. (Robert), Stolk, L. (Lisette), Vallejo, E.E. (Edgar E.), Westra, H.J. (Harm-Jan), Zondervan, K.T. (Krina), Amouyel, P. (Philippe), Arveiler, D. (Dominique), Bakker, S.J.L. (Stephan), Beilby, J.P. (John), Bergman, R.N. (Richard), Blangero, J. (John), Brown, M.J. (Morris), Burnier, M. (Michel), Campbell, H. (Harry), Chakravarti, A. (Aravinda), Chines, P.S. (Peter), Claudi-Boehm, S. (Simone), Collins, F.S. (Francis), Crawford, D.C. (Dana), Danesh, J. (John), Faire, U. (Ulf) de, Geus, E.J.C. (Eco) de, Dörr, M. (Marcus), Erbel, R. (Raimund), Hagen, K. (Knut), Farrall, M. (Martin), Ferrannini, E. (Ele), Ferrieres, J. (Jean), Forouhi, N.G. (Nita), Forrester, T. (Terrence), Franco, O.H. (Oscar), Gansevoort, R.T. (Ron), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Haiman, C.A. (Christopher), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Heliovaara, M. (Markku), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Homuth, G. (Georg), Humphries, S.E. (Steve), Hypponen, E. (Elina), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Johansen, B. (Berit), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaprio, J. (Jaakko), Kee, F. (F.), Keinanen-Kiukaanniemi, S. (Sirkka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Le Marchand, L. (Loic), Lehtimäki, T. (Terho), Lyssenko, V. (Valeriya), Männistö, S. (Satu), Marette, A. (Andre'), Matise, T.C. (Tara C.), McKenzie, C.A. (Colin A.), McKnight, B. (Barbara), Musk, A.W. (Arthur), Möhlenkamp, S. (Stefan), Morris, A.D. (Andrew), Nelis, M. (Mari), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ong, K.K. (Ken K.), Penninx, B.W.J.H. (Brenda), Peters, A. (Annette), Pramstaller, P.P. (Peter Paul), Raitakari, O. (Olli), Rankinen, T. (Tuomo), Rao, D.C. (Dabeeru C.), Rice, T.K. (Treva K.), Ridker, P.M. (Paul), Ritchie, M.D. (Marylyn D.), Rudan, I. (Igor), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sarzynski, M.A. (Mark A.), Schwarz, P.E.H. (Peter E. H.), Shuldiner, A.R. (Alan), Staessen, J.A. (Jan), Steinthorsdottir, V. (Valgerdur), Stolk, R.P. (Ronald), Strauch, K. (Konstantin), Tönjes, A. (Anke), Tremblay, A. (Angelo), Tremoli, E. (Elena), Vohl, M.-C. (Marie-Claude), Völker, U. (Uwe), Vollenweider, P. (Peter), Wilson, J.F. (James F), Witteman, J.C.M. (Jacqueline), Adair, L.S. (Linda), Bochud, M. (Murielle), Boehm, B.O. (Bernhard), Bornstein, S.R. (Stefan R.), Bouchard, C. (Claude), Cauchi, S. (Ste'phane), Caulfield, M. (Mark), Chambers, J.C. (John C.), Chasman, D.I. (Daniel), Cooper, R.S. (Richard S.), Dedoussis, G.V. (George), Ferrucci, L. (Luigi), Froguel, P. (Philippe), Grabe, H.J. (Hans Jörgen), Hamsten, A. (Anders), Hui, J. (Jennie), Hveem, K. (Kristian), Jöckel, K.-H. (Karl-Heinz), Kivimaki, M. (Mika), Kuh, D. (Diana), Laakso, M. (Markku), Liu, Y. (YongMei), März, W. (Winfried), Munroe, P. (Patricia), Njølstad, I. (Inger), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Pedersen, N.L. (Nancy L.), Perola, M. (Markus), Perusse, L. (Louis), Peters, U. (Ulrike), Power, C. (Christopher), Quertermous, T. (Thomas), Rauramaa, R. (Rainer), Rivadeneira Ramirez, F. (Fernando), Saaristo, T. (Timo), Saleheen, D., Sinisalo, J. (Juha), Slagboom, P.E. (Eline), Snieder, H. (Harold), Spector, T.D. (Timothy), Thorsteinsdottir, U. (Unnur), Stumvoll, M. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Veronesi, G. (Giovanni), Walker, M. (Mark), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Berndt, S.I. (Sonja), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Franke, L. (Lude), Frayling, T.M. (Timothy), Groop, L. (Leif), Hunter, D. (David), Kaplan, R.C. (Robert), O´Connell, J.R., Qi, L. (Lu), Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Willer, C.J. (Cristen), Visscher, P.M. (Peter), Yang, J. (Joanna), Hirschhorn, J.N. (Joel N.), Zillikens, M.C. (Carola), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Fox, C.S. (Caroline S.), Barroso, I.E. (Inês), Franks, P.W. (Paul), Anderson, D. (Denise), Ingelsson, E. (Erik), Heid, I.M. (Iris), Loos, R.J.F. (Ruth), Cupples, L.A. (Adrienne), Morris, A.P. (Andrew), Lindgren, C.M. (Cecilia), and Mohlke, K.L. (Karen)
Abstract: Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10-8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.
Published: 2015
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13. Genome-wide association study of kidney function decline in individuals of European descent

Author: Gorski, M. (Mathias), Tin, A. (Adrienne), Garnaas, M. (Maija), McMahon, G.M. (Gearoid M.), Chu, A.Y. (Audrey Y.), Tayo, B. (Bamidele), Pattaro, C. (Cristian), Teumer, A. (Alexander), Chasman, D.I. (Daniel), Chalmers, J. (John), Hamet, P. (Pavel), Tremblay, J. (Johanne), Woodward, M. (Mark), Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Smith, A.V. (Albert V.), Mitchell, B.D. (Braxton), O´Connell, J.R., Shuldiner, A.R. (Alan), Coresh, J. (Josef), Li, M. (Man), Freudenberger, P. (Paul), Hofer, E. (Edith), Schmidt, R. (Reinhold), Holliday, E.G. (Elizabeth), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Boer, I.H. (Ian) de, Li, G. (Guo), Siscovick, D.S. (David), Kutalik, Z., Corre, T. (Tanguy), Vollenweider, P. (Peter), Waeber, G. (Gérard), Gupta, J. (Jayanta), Kanetsky, P.P. (Peter P.), Hwang, S.J., Olden, M. (Matthias), Yang, Q. (Qiong Fang), Andrade, M. (Mariza) de, Atkinson, E.J. (Elizabeth J.), Kardia, S.L.R. (Sharon), Turner, S.T. (Stephen), Stafford, J.M. (Jeanette M.), Ding, J. (Jingzhong), Liu, Y., Barlassina, C. (Christina), Cusi, D. (Daniele), Salvi, E. (Erika), Staessen, J.A. (Jan), Ridker, P.M. (Paul), Grallert, H. (Harald), Meisinger, C. (Christa), Müller-Nurasyid, M. (Martina), Krämer, B.K. (Bernhard K.), Kramer, H. (Holly), Rosas, S.E. (Sylvia E.), Nolte, I.M. (Ilja M.), Penninx, B.W.J.H. (Brenda), Snieder, H. (Harold), Fabiola Del Greco, M., Franke, A. (Andre), Nöthlings, U. (Ute), Lieb, W. (Wolfgang), Bakker, S.J.L. (Stephan), Gansevoort, R.T. (Ron), Van Der Harst, P. (Pim), Dehghan, A. (Abbas), Franco, O.H. (Oscar), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Sedaghat, S. (Sanaz), Uitterlinden, A.G. (André), Coassin, S. (Stefan), Haun, M. (Margot), Kollerits, B. (Barbara), Kronenberg, F. (Florian), Paulweber, B. (Bernhard), Aumann, N. (Nicole), Endlich, K. (Karlhans), Pietzner, M. (Mike), Völker, U. (Uwe), Rettig, R. (Rainer), Chouraki, V. (Vincent), Helmer, C. (Catherine), Lambert, J.-C. (Jean-Charles), Metzger, M. (Marie), Stengel, B. (Benedicte), Lehtimäki, T. (Terho), Lyytikäinen, L.-P. (Leo-Pekka), Raitakari, O. (Olli), Johnson, A.D. (Andrew), Parsa, A. (Afshin), Bochud, M. (Murielle), Heid, I.M. (Iris), Goessling, W. (Wolfram), Köttgen, A. (Anna), Kao, W.H.L. (Wen), Fox, C.S. (Caroline S.), Böger, C.A. (Carsten), Gorski, M. (Mathias), Tin, A. (Adrienne), Garnaas, M. (Maija), McMahon, G.M. (Gearoid M.), Chu, A.Y. (Audrey Y.), Tayo, B. (Bamidele), Pattaro, C. (Cristian), Teumer, A. (Alexander), Chasman, D.I. (Daniel), Chalmers, J. (John), Hamet, P. (Pavel), Tremblay, J. (Johanne), Woodward, M. (Mark), Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Smith, A.V. (Albert V.), Mitchell, B.D. (Braxton), O´Connell, J.R., Shuldiner, A.R. (Alan), Coresh, J. (Josef), Li, M. (Man), Freudenberger, P. (Paul), Hofer, E. (Edith), Schmidt, R. (Reinhold), Holliday, E.G. (Elizabeth), Mitchell, P. (Paul), Wang, J.J. (Jie Jin), Boer, I.H. (Ian) de, Li, G. (Guo), Siscovick, D.S. (David), Kutalik, Z., Corre, T. (Tanguy), Vollenweider, P. (Peter), Waeber, G. (Gérard), Gupta, J. (Jayanta), Kanetsky, P.P. (Peter P.), Hwang, S.J., Olden, M. (Matthias), Yang, Q. (Qiong Fang), Andrade, M. (Mariza) de, Atkinson, E.J. (Elizabeth J.), Kardia, S.L.R. (Sharon), Turner, S.T. (Stephen), Stafford, J.M. (Jeanette M.), Ding, J. (Jingzhong), Liu, Y., Barlassina, C. (Christina), Cusi, D. (Daniele), Salvi, E. (Erika), Staessen, J.A. (Jan), Ridker, P.M. (Paul), Grallert, H. (Harald), Meisinger, C. (Christa), Müller-Nurasyid, M. (Martina), Krämer, B.K. (Bernhard K.), Kramer, H. (Holly), Rosas, S.E. (Sylvia E.), Nolte, I.M. (Ilja M.), Penninx, B.W.J.H. (Brenda), Snieder, H. (Harold), Fabiola Del Greco, M., Franke, A. (Andre), Nöthlings, U. (Ute), Lieb, W. (Wolfgang), Bakker, S.J.L. (Stephan), Gansevoort, R.T. (Ron), Van Der Harst, P. (Pim), Dehghan, A. (Abbas), Franco, O.H. (Oscar), Hofman, A. (Albert), Rivadeneira Ramirez, F. (Fernando), Sedaghat, S. (Sanaz), Uitterlinden, A.G. (André), Coassin, S. (Stefan), Haun, M. (Margot), Kollerits, B. (Barbara), Kronenberg, F. (Florian), Paulweber, B. (Bernhard), Aumann, N. (Nicole), Endlich, K. (Karlhans), Pietzner, M. (Mike), Völker, U. (Uwe), Rettig, R. (Rainer), Chouraki, V. (Vincent), Helmer, C. (Catherine), Lambert, J.-C. (Jean-Charles), Metzger, M. (Marie), Stengel, B. (Benedicte), Lehtimäki, T. (Terho), Lyytikäinen, L.-P. (Leo-Pekka), Raitakari, O. (Olli), Johnson, A.D. (Andrew), Parsa, A. (Afshin), Bochud, M. (Murielle), Heid, I.M. (Iris), Goessling, W. (Wolfram), Köttgen, A. (Anna), Kao, W.H.L. (Wen), Fox, C.S. (Caroline S.), and Böger, C.A. (Carsten)
Abstract: Genome-wide association studies (GWASs) have identified multiple loci associated with cross-sectional eGFR, but a systematic genetic analysis of kidney function decline over time is missing. Here we conducted a GWAS meta-analysis among 63,558 participants of European descent, initially from 16 cohorts with serial kidney function measurements within the CKDGen Consortium, followed by independent replication among additional participants from 13 cohorts. In stage 1 GWAS meta-analysis, single-nucleotide polymorphisms (SNPs) at MEOX2, GALNT11, IL1RAP, NPPA, HPCAL1, and CDH23 showed the strongest associations for at least one trait, in addition to the known UMOD locus, which showed genome-wide significance with an annual change in eGFR. In stage 2 meta-analysis, the significant association at UMOD was replicated. Associations at GALNT11 with Rapid Decline (annual eGFR decline of 3 ml/min per 1.73 m 2 or more), and CDH23 with eGFR change among those with CKD showed significant suggestive evidence of replication. Combined stage 1 and 2 meta-analyses showed significance for UMOD, GALNT11, and CDH23. Morpholino knockdowns of galnt11 and cdh23 in zebrafish embryos each had signs of severe edema 72 h after gentamicin treatment compared with controls, but no gross morphological renal abnormalities before gentamicin administration. Thus, our results suggest a role in the deterioration of kidney function for the loci GALNT11 and CDH23, and show that the UMOD locus is significantly associated with kidney function decline.
Published: 2015
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14. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Author: Berndt, S.I. (Sonja), Gustafsson, S. (Stefan), Mägi, R. (Reedik), Ganna, A. (Andrea), Wheeler, E. (Eleanor), Feitosa, M.F. (Mary Furlan), Justice, A.E. (Anne), Monda, K.L. (Keri), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Ferreira, T. (Teresa), Gentilini, D. (Davide), Jackson, A.U. (Anne), Luan, J., Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Willer, C.J. (Cristen), Winkler, T.W. (Thomas), Wood, A.R. (Andrew), Workalemahu, T. (Tsegaselassie), Hu, Y.-J. (Yi-Juan), Lee, S.H. (Sang Hong), Liang, L. (Liming), Lin, D.Y. (Dan), Min, J. (Josine), Neale, B.M. (Benjamin), Thorleifsson, G. (Gudmar), Yang, J. (Jian), Albrecht, E. (Eva), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Heijer, M. (Martin) den, Eklund, N. (Niina), Fischer, K. (Krista), Goel, A. (Anuj), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jarick, I. (Ivonne), Johansson, A. (Åsa), Johnson, T. (Toby), Kanoni, S. (Stavroula), Kleber, M.E. (Marcus), König, I.R. (Inke), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lamina, C. (Claudia), Lecoeur, C. (Cécile), Li, G. (Guo), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Medina-Gomez, M.C. (Carolina), Müller-Nurasyid, M. (Martina), Ngwa, J.S., Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Pechlivanis, S. (Sonali), Perola, M. (Markus), Peters, M.J. (Marjolein), Preuss, M. (Michael), Rose, L.M. (Lynda), Shi, J. (Jianxin), Shungin, D. (Dmitry), Smith, A.V. (Davey), Strawbridge, R.J. (Rona), Surakka, I. (Ida), Teumer, A. (Alexander), Trip, M.D. (Mieke), Tyrer, J.P. (Jonathan), Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Waite, L. (Lindsay), Zhao, J.H. (Jing Hua), Absher, D. (Devin), Asselbergs, F.W. (Folkert), Atalay, M. (Mustafa), Attwood, A.P. (Antony), Balmforth, A.J. (Anthony), Basart, D.C.G. (Dick), Beilby, J.P. (John), Bonnycastle, L.L. (Lori), Brambilla, P. (Paolo), Bruinenberg, M. (M.), Campbell, H. (Harry), Chasman, D.I. (Daniel), Chines, P.S. (Peter), Collins, F.S. (Francis), Connell, J. (John), Cookson, W.O. (William), Faire, U. (Ulf) de, Vegt, F. (Femmie) de, Dei, M. (Mariano), Dimitriou, M. (Maria), Edkins, T. (Ted), Estrada Gil, K. (Karol), Evans, D.M. (David), Farrall, M. (Martin), Ferrario, F. (Franco), Ferrières, J. (Jean), Franke, L. (Lude), Frau, F. (Francesca), Gejman, P.V. (Pablo), Grallert, H. (Harald), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Hall, A. (Anne), Hall, A.S. (Alistair), Hartikainen, A.L., Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Heath, A.C. (Andrew), Hebebrand, J. (Johannes), Homuth, G. (Georg), Hu, F.B. (Frank), Hunt, S.E. (Sarah), Hyppönen, E. (Elina), Iribarren, C. (Carlos), Jacobs, K.B. (Kevin), Jansson, J.-O. (John-Olov), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Kee, F. (F.), Khaw, K-T. (Kay-Tee), Kivimaki, M. (Mika), Koenig, W. (Wolfgang), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lind, L. (Lars), Lindstrom, J. (Jaana), Liu, J. (Jianjun), Liuzzi, A. (Antonio), Lokki, M.L., Lorentzon, M. (Mattias), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Manunta, P. (Paolo), Marek, D. (Diana), März, W. (Winfried), Leach, I.M. (Irene Mateo), McKnight, B. (Barbara), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Milani, L. (Lili), Montgomery, G.W. (Grant), Mooser, V. (Vincent), Mühleisen, T.W. (Thomas), Munroe, P. (Patricia), Musk, A.W. (Arthur), Narisu, N. (Narisu), Navis, G. (Gerjan), Nicholson, G. (Ggeorge), Nohr, C. (Christian), Ong, K. (Ken), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Palotie, A. (Aarno), Peden, J. (John), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polasek, O. (Ozren), Pouta, A. (Anneli), Pramstaller, P.P. (Peter Paul), Prokopenko, I. (Inga), Pütter, C. (Carolin), Radhakrishnan, A. (Aparna), Raitakari, O. (Olli), Rendon, A. (Augusto), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Saaristo, T. (Timo), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Sanna, S. (Serena), Saramies, J. (Jouko), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Shin, S.-Y., Signorini, S. (Stefano), Sinisalo, J. (Juha), Skrobek, B. (Boris), Soranzo, N. (Nicole), Stancáková, A. (Alena), Stark, K. (Klaus), Stephens, J. (Jonathan), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stumvoll, M. (Michael), Swift, A.J. (Amy), Theodoraki, E.V. (Eirini), Thorand, B. (Barbara), Tregouet, D.-A. (David-Alexandre), Tremoli, E. (Elena), Klauw, M.M. (Melanie) van der, Meurs, J.B.J. (Joyce) van, Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Virtamo, J. (Jarmo), Vitart, V. (Veronique), Waeber, G. (Gérard), Wang, Z. (Zhaoming), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Winkelmann, B., Witteman, J.C.M. (Jacqueline), Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Amouyel, P. (Philippe), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Cupples, L.A. (Adrienne), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Eriksson, J.G. (Johan), Franks, P.W. (Paul), Froguel, P. (Philippe), Gieger, C. (Christian), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hinney, A. (Anke), Hofman, A. (Albert), Hovingh, G.K. (Kees), Hveem, K. (Kristian), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Jöckel, K.-H. (Karl-Heinz), Keinanen-Kiukaanniemi, S. (Sirkka), Kiemeney, L.A.L.M. (Bart), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Levinson, D.F. (Douglas), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Morris, A.D. (Andrew), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ouwehand, W.H. (Willem), Palmer, C. (Cameron), Penninx, B.W.J.H. (Brenda), Power, C. (Christopher), Province, M.A. (Mike), Psaty, B.M. (Bruce), Qi, L. (Lu), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Ripatti, S. (Samuli), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Snieder, H. (Harold), Sorensen, H.G., Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunian, T. (Talin), Heid, I.M. (Iris), Hunter, D. (David), Kaplan, R.C. (Robert), Karpe, F. (Fredrik), Moffatt, M.F. (Miriam), Mohlke, K.L. (Karen), O´Connell, J.R., Pawitan, Y. (Yudi), Schadt, E.E. (Eric), Schlessinger, D. (David), Steinthorsdottir, V. (Valgerdur), Strachan, D.P. (David), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Di Blasio, A.M. (Anna Maria), Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia), Meyre, D. (David), Scherag, A. (Andre), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Loos, R.J.F. (Ruth), Ingelsson, E. (Erik), Berndt, S.I. (Sonja), Gustafsson, S. (Stefan), Mägi, R. (Reedik), Ganna, A. (Andrea), Wheeler, E. (Eleanor), Feitosa, M.F. (Mary Furlan), Justice, A.E. (Anne), Monda, K.L. (Keri), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Ferreira, T. (Teresa), Gentilini, D. (Davide), Jackson, A.U. (Anne), Luan, J., Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Willer, C.J. (Cristen), Winkler, T.W. (Thomas), Wood, A.R. (Andrew), Workalemahu, T. (Tsegaselassie), Hu, Y.-J. (Yi-Juan), Lee, S.H. (Sang Hong), Liang, L. (Liming), Lin, D.Y. (Dan), Min, J. (Josine), Neale, B.M. (Benjamin), Thorleifsson, G. (Gudmar), Yang, J. (Jian), Albrecht, E. (Eva), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Heijer, M. (Martin) den, Eklund, N. (Niina), Fischer, K. (Krista), Goel, A. (Anuj), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jarick, I. (Ivonne), Johansson, A. (Åsa), Johnson, T. (Toby), Kanoni, S. (Stavroula), Kleber, M.E. (Marcus), König, I.R. (Inke), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lamina, C. (Claudia), Lecoeur, C. (Cécile), Li, G. (Guo), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Medina-Gomez, M.C. (Carolina), Müller-Nurasyid, M. (Martina), Ngwa, J.S., Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Pechlivanis, S. (Sonali), Perola, M. (Markus), Peters, M.J. (Marjolein), Preuss, M. (Michael), Rose, L.M. (Lynda), Shi, J. (Jianxin), Shungin, D. (Dmitry), Smith, A.V. (Davey), Strawbridge, R.J. (Rona), Surakka, I. (Ida), Teumer, A. (Alexander), Trip, M.D. (Mieke), Tyrer, J.P. (Jonathan), Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Waite, L. (Lindsay), Zhao, J.H. (Jing Hua), Absher, D. (Devin), Asselbergs, F.W. (Folkert), Atalay, M. (Mustafa), Attwood, A.P. (Antony), Balmforth, A.J. (Anthony), Basart, D.C.G. (Dick), Beilby, J.P. (John), Bonnycastle, L.L. (Lori), Brambilla, P. (Paolo), Bruinenberg, M. (M.), Campbell, H. (Harry), Chasman, D.I. (Daniel), Chines, P.S. (Peter), Collins, F.S. (Francis), Connell, J. (John), Cookson, W.O. (William), Faire, U. (Ulf) de, Vegt, F. (Femmie) de, Dei, M. (Mariano), Dimitriou, M. (Maria), Edkins, T. (Ted), Estrada Gil, K. (Karol), Evans, D.M. (David), Farrall, M. (Martin), Ferrario, F. (Franco), Ferrières, J. (Jean), Franke, L. (Lude), Frau, F. (Francesca), Gejman, P.V. (Pablo), Grallert, H. (Harald), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Hall, A. (Anne), Hall, A.S. (Alistair), Hartikainen, A.L., Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Heath, A.C. (Andrew), Hebebrand, J. (Johannes), Homuth, G. (Georg), Hu, F.B. (Frank), Hunt, S.E. (Sarah), Hyppönen, E. (Elina), Iribarren, C. (Carlos), Jacobs, K.B. (Kevin), Jansson, J.-O. (John-Olov), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Kee, F. (F.), Khaw, K-T. (Kay-Tee), Kivimaki, M. (Mika), Koenig, W. (Wolfgang), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lind, L. (Lars), Lindstrom, J. (Jaana), Liu, J. (Jianjun), Liuzzi, A. (Antonio), Lokki, M.L., Lorentzon, M. (Mattias), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Manunta, P. (Paolo), Marek, D. (Diana), März, W. (Winfried), Leach, I.M. (Irene Mateo), McKnight, B. (Barbara), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Milani, L. (Lili), Montgomery, G.W. (Grant), Mooser, V. (Vincent), Mühleisen, T.W. (Thomas), Munroe, P. (Patricia), Musk, A.W. (Arthur), Narisu, N. (Narisu), Navis, G. (Gerjan), Nicholson, G. (Ggeorge), Nohr, C. (Christian), Ong, K. (Ken), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Palotie, A. (Aarno), Peden, J. (John), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polasek, O. (Ozren), Pouta, A. (Anneli), Pramstaller, P.P. (Peter Paul), Prokopenko, I. (Inga), Pütter, C. (Carolin), Radhakrishnan, A. (Aparna), Raitakari, O. (Olli), Rendon, A. (Augusto), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Saaristo, T. (Timo), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Sanna, S. (Serena), Saramies, J. (Jouko), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Shin, S.-Y., Signorini, S. (Stefano), Sinisalo, J. (Juha), Skrobek, B. (Boris), Soranzo, N. (Nicole), Stancáková, A. (Alena), Stark, K. (Klaus), Stephens, J. (Jonathan), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stumvoll, M. (Michael), Swift, A.J. (Amy), Theodoraki, E.V. (Eirini), Thorand, B. (Barbara), Tregouet, D.-A. (David-Alexandre), Tremoli, E. (Elena), Klauw, M.M. (Melanie) van der, Meurs, J.B.J. (Joyce) van, Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Virtamo, J. (Jarmo), Vitart, V. (Veronique), Waeber, G. (Gérard), Wang, Z. (Zhaoming), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Winkelmann, B., Witteman, J.C.M. (Jacqueline), Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Amouyel, P. (Philippe), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Cupples, L.A. (Adrienne), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Eriksson, J.G. (Johan), Franks, P.W. (Paul), Froguel, P. (Philippe), Gieger, C. (Christian), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hinney, A. (Anke), Hofman, A. (Albert), Hovingh, G.K. (Kees), Hveem, K. (Kristian), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Jöckel, K.-H. (Karl-Heinz), Keinanen-Kiukaanniemi, S. (Sirkka), Kiemeney, L.A.L.M. (Bart), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Levinson, D.F. (Douglas), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Morris, A.D. (Andrew), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ouwehand, W.H. (Willem), Palmer, C. (Cameron), Penninx, B.W.J.H. (Brenda), Power, C. (Christopher), Province, M.A. (Mike), Psaty, B.M. (Bruce), Qi, L. (Lu), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Ripatti, S. (Samuli), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Snieder, H. (Harold), Sorensen, H.G., Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunian, T. (Talin), Heid, I.M. (Iris), Hunter, D. (David), Kaplan, R.C. (Robert), Karpe, F. (Fredrik), Moffatt, M.F. (Miriam), Mohlke, K.L. (Karen), O´Connell, J.R., Pawitan, Y. (Yudi), Schadt, E.E. (Eric), Schlessinger, D. (David), Steinthorsdottir, V. (Valgerdur), Strachan, D.P. (David), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Di Blasio, A.M. (Anna Maria), Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia), Meyre, D. (David), Scherag, A. (Andre), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Loos, R.J.F. (Ruth), and Ingelsson, E. (Erik)
Abstract: Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
Published: 2013
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15. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Author: Berndt, S.I. (Sonja), Gustafsson, S. (Stefan), Mägi, R. (Reedik), Ganna, A. (Andrea), Wheeler, E. (Eleanor), Feitosa, M.F. (Mary Furlan), Justice, A.E. (Anne), Monda, K.L. (Keri), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Ferreira, T. (Teresa), Gentilini, D. (Davide), Jackson, A.U. (Anne), Luan, J., Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Willer, C.J. (Cristen), Winkler, T.W. (Thomas), Wood, A.R. (Andrew), Workalemahu, T. (Tsegaselassie), Hu, Y.-J. (Yi-Juan), Lee, S.H. (Sang Hong), Liang, L. (Liming), Lin, D.Y. (Dan), Min, J. (Josine), Neale, B.M. (Benjamin), Thorleifsson, G. (Gudmar), Yang, J. (Jian), Albrecht, E. (Eva), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Heijer, M. (Martin) den, Eklund, N. (Niina), Fischer, K. (Krista), Goel, A. (Anuj), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jarick, I. (Ivonne), Johansson, A. (Åsa), Johnson, T. (Toby), Kanoni, S. (Stavroula), Kleber, M.E. (Marcus), König, I.R. (Inke), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lamina, C. (Claudia), Lecoeur, C. (Cécile), Li, G. (Guo), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Medina-Gomez, M.C. (Carolina), Müller-Nurasyid, M. (Martina), Ngwa, J.S., Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Pechlivanis, S. (Sonali), Perola, M. (Markus), Peters, M.J. (Marjolein), Preuss, M. (Michael), Rose, L.M. (Lynda), Shi, J. (Jianxin), Shungin, D. (Dmitry), Smith, A.V. (Davey), Strawbridge, R.J. (Rona), Surakka, I. (Ida), Teumer, A. (Alexander), Trip, M.D. (Mieke), Tyrer, J.P. (Jonathan), Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Waite, L. (Lindsay), Zhao, J.H. (Jing Hua), Absher, D. (Devin), Asselbergs, F.W. (Folkert), Atalay, M. (Mustafa), Attwood, A.P. (Antony), Balmforth, A.J. (Anthony), Basart, D.C.G. (Dick), Beilby, J.P. (John), Bonnycastle, L.L. (Lori), Brambilla, P. (Paolo), Bruinenberg, M. (M.), Campbell, H. (Harry), Chasman, D.I. (Daniel), Chines, P.S. (Peter), Collins, F.S. (Francis), Connell, J. (John), Cookson, W.O. (William), Faire, U. (Ulf) de, Vegt, F. (Femmie) de, Dei, M. (Mariano), Dimitriou, M. (Maria), Edkins, T. (Ted), Estrada Gil, K. (Karol), Evans, D.M. (David), Farrall, M. (Martin), Ferrario, F. (Franco), Ferrières, J. (Jean), Franke, L. (Lude), Frau, F. (Francesca), Gejman, P.V. (Pablo), Grallert, H. (Harald), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Hall, A. (Anne), Hall, A.S. (Alistair), Hartikainen, A.L., Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Heath, A.C. (Andrew), Hebebrand, J. (Johannes), Homuth, G. (Georg), Hu, F.B. (Frank), Hunt, S.E. (Sarah), Hyppönen, E. (Elina), Iribarren, C. (Carlos), Jacobs, K.B. (Kevin), Jansson, J.-O. (John-Olov), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Kee, F. (F.), Khaw, K-T. (Kay-Tee), Kivimaki, M. (Mika), Koenig, W. (Wolfgang), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lind, L. (Lars), Lindstrom, J. (Jaana), Liu, J. (Jianjun), Liuzzi, A. (Antonio), Lokki, M.L., Lorentzon, M. (Mattias), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Manunta, P. (Paolo), Marek, D. (Diana), März, W. (Winfried), Leach, I.M. (Irene Mateo), McKnight, B. (Barbara), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Milani, L. (Lili), Montgomery, G.W. (Grant), Mooser, V. (Vincent), Mühleisen, T.W. (Thomas), Munroe, P. (Patricia), Musk, A.W. (Arthur), Narisu, N. (Narisu), Navis, G. (Gerjan), Nicholson, G. (Ggeorge), Nohr, C. (Christian), Ong, K. (Ken), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Palotie, A. (Aarno), Peden, J. (John), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polasek, O. (Ozren), Pouta, A. (Anneli), Pramstaller, P.P. (Peter Paul), Prokopenko, I. (Inga), Pütter, C. (Carolin), Radhakrishnan, A. (Aparna), Raitakari, O. (Olli), Rendon, A. (Augusto), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Saaristo, T. (Timo), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Sanna, S. (Serena), Saramies, J. (Jouko), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Shin, S.-Y., Signorini, S. (Stefano), Sinisalo, J. (Juha), Skrobek, B. (Boris), Soranzo, N. (Nicole), Stancáková, A. (Alena), Stark, K. (Klaus), Stephens, J. (Jonathan), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stumvoll, M. (Michael), Swift, A.J. (Amy), Theodoraki, E.V. (Eirini), Thorand, B. (Barbara), Tregouet, D.-A. (David-Alexandre), Tremoli, E. (Elena), Klauw, M.M. (Melanie) van der, Meurs, J.B.J. (Joyce) van, Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Virtamo, J. (Jarmo), Vitart, V. (Veronique), Waeber, G. (Gérard), Wang, Z. (Zhaoming), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Winkelmann, B., Witteman, J.C.M. (Jacqueline), Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Amouyel, P. (Philippe), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Cupples, L.A. (Adrienne), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Eriksson, J.G. (Johan), Franks, P.W. (Paul), Froguel, P. (Philippe), Gieger, C. (Christian), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hinney, A. (Anke), Hofman, A. (Albert), Hovingh, G.K. (Kees), Hveem, K. (Kristian), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Jöckel, K.-H. (Karl-Heinz), Keinanen-Kiukaanniemi, S. (Sirkka), Kiemeney, L.A.L.M. (Bart), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Levinson, D.F. (Douglas), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Morris, A.D. (Andrew), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ouwehand, W.H. (Willem), Palmer, C. (Cameron), Penninx, B.W.J.H. (Brenda), Power, C. (Christopher), Province, M.A. (Mike), Psaty, B.M. (Bruce), Qi, L. (Lu), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Ripatti, S. (Samuli), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Snieder, H. (Harold), Sorensen, H.G., Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunian, T. (Talin), Heid, I.M. (Iris), Hunter, D. (David), Kaplan, R.C. (Robert), Karpe, F. (Fredrik), Moffatt, M.F. (Miriam), Mohlke, K.L. (Karen), O´Connell, J.R., Pawitan, Y. (Yudi), Schadt, E.E. (Eric), Schlessinger, D. (David), Steinthorsdottir, V. (Valgerdur), Strachan, D.P. (David), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Di Blasio, A.M. (Anna Maria), Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia), Meyre, D. (David), Scherag, A. (Andre), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Loos, R.J.F. (Ruth), Ingelsson, E. (Erik), Berndt, S.I. (Sonja), Gustafsson, S. (Stefan), Mägi, R. (Reedik), Ganna, A. (Andrea), Wheeler, E. (Eleanor), Feitosa, M.F. (Mary Furlan), Justice, A.E. (Anne), Monda, K.L. (Keri), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Esko, T. (Tõnu), Fall, M. (Magnus), Ferreira, T. (Teresa), Gentilini, D. (Davide), Jackson, A.U. (Anne), Luan, J., Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Willer, C.J. (Cristen), Winkler, T.W. (Thomas), Wood, A.R. (Andrew), Workalemahu, T. (Tsegaselassie), Hu, Y.-J. (Yi-Juan), Lee, S.H. (Sang Hong), Liang, L. (Liming), Lin, D.Y. (Dan), Min, J. (Josine), Neale, B.M. (Benjamin), Thorleifsson, G. (Gudmar), Yang, J. (Jian), Albrecht, E. (Eva), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Heijer, M. (Martin) den, Eklund, N. (Niina), Fischer, K. (Krista), Goel, A. (Anuj), Hottenga, J.J. (Jouke Jan), Huffman, J.E. (Jennifer), Jarick, I. (Ivonne), Johansson, A. (Åsa), Johnson, T. (Toby), Kanoni, S. (Stavroula), Kleber, M.E. (Marcus), König, I.R. (Inke), Kristiansson, K. (Kati), Kutalik, Z. (Zoltán), Lamina, C. (Claudia), Lecoeur, C. (Cécile), Li, G. (Guo), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Medina-Gomez, M.C. (Carolina), Müller-Nurasyid, M. (Martina), Ngwa, J.S., Nolte, I.M. (Ilja), Paternoster, L. (Lavinia), Pechlivanis, S. (Sonali), Perola, M. (Markus), Peters, M.J. (Marjolein), Preuss, M. (Michael), Rose, L.M. (Lynda), Shi, J. (Jianxin), Shungin, D. (Dmitry), Smith, A.V. (Davey), Strawbridge, R.J. (Rona), Surakka, I. (Ida), Teumer, A. (Alexander), Trip, M.D. (Mieke), Tyrer, J.P. (Jonathan), Vliet-Ostaptchouk, J.V. (Jana) van, Vandenput, L. (Liesbeth), Waite, L. (Lindsay), Zhao, J.H. (Jing Hua), Absher, D. (Devin), Asselbergs, F.W. (Folkert), Atalay, M. (Mustafa), Attwood, A.P. (Antony), Balmforth, A.J. (Anthony), Basart, D.C.G. (Dick), Beilby, J.P. (John), Bonnycastle, L.L. (Lori), Brambilla, P. (Paolo), Bruinenberg, M. (M.), Campbell, H. (Harry), Chasman, D.I. (Daniel), Chines, P.S. (Peter), Collins, F.S. (Francis), Connell, J. (John), Cookson, W.O. (William), Faire, U. (Ulf) de, Vegt, F. (Femmie) de, Dei, M. (Mariano), Dimitriou, M. (Maria), Edkins, T. (Ted), Estrada Gil, K. (Karol), Evans, D.M. (David), Farrall, M. (Martin), Ferrario, F. (Franco), Ferrières, J. (Jean), Franke, L. (Lude), Frau, F. (Francesca), Gejman, P.V. (Pablo), Grallert, H. (Harald), Grönberg, H. (Henrik), Gudnason, V. (Vilmundur), Hall, A. (Anne), Hall, A.S. (Alistair), Hartikainen, A.L., Hayward, C. (Caroline), Heard-Costa, N.L. (Nancy), Heath, A.C. (Andrew), Hebebrand, J. (Johannes), Homuth, G. (Georg), Hu, F.B. (Frank), Hunt, S.E. (Sarah), Hyppönen, E. (Elina), Iribarren, C. (Carlos), Jacobs, K.B. (Kevin), Jansson, J.-O. (John-Olov), Jula, A. (Antti), Kähönen, M. (Mika), Kathiresan, S. (Sekar), Kee, F. (F.), Khaw, K-T. (Kay-Tee), Kivimaki, M. (Mika), Koenig, W. (Wolfgang), Kraja, A. (Aldi), Kumari, M. (Meena), Kuulasmaa, K. (Kari), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakka, T.A. (Timo), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lind, L. (Lars), Lindstrom, J. (Jaana), Liu, J. (Jianjun), Liuzzi, A. (Antonio), Lokki, M.L., Lorentzon, M. (Mattias), Madden, P.A. (Pamela), Magnusson, P.K. (Patrik), Manunta, P. (Paolo), Marek, D. (Diana), März, W. (Winfried), Leach, I.M. (Irene Mateo), McKnight, B. (Barbara), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Milani, L. (Lili), Montgomery, G.W. (Grant), Mooser, V. (Vincent), Mühleisen, T.W. (Thomas), Munroe, P. (Patricia), Musk, A.W. (Arthur), Narisu, N. (Narisu), Navis, G. (Gerjan), Nicholson, G. (Ggeorge), Nohr, C. (Christian), Ong, K. (Ken), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Palotie, A. (Aarno), Peden, J. (John), Pedersen, N.L. (Nancy), Peters, A. (Annette), Polasek, O. (Ozren), Pouta, A. (Anneli), Pramstaller, P.P. (Peter Paul), Prokopenko, I. (Inga), Pütter, C. (Carolin), Radhakrishnan, A. (Aparna), Raitakari, O. (Olli), Rendon, A. (Augusto), Rivadeneira Ramirez, F. (Fernando), Rudan, I. (Igor), Saaristo, T. (Timo), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Sanna, S. (Serena), Saramies, J. (Jouko), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Shin, S.-Y., Signorini, S. (Stefano), Sinisalo, J. (Juha), Skrobek, B. (Boris), Soranzo, N. (Nicole), Stancáková, A. (Alena), Stark, K. (Klaus), Stephens, J. (Jonathan), Stirrups, K. (Kathy), Stolk, R.P. (Ronald), Stumvoll, M. (Michael), Swift, A.J. (Amy), Theodoraki, E.V. (Eirini), Thorand, B. (Barbara), Tregouet, D.-A. (David-Alexandre), Tremoli, E. (Elena), Klauw, M.M. (Melanie) van der, Meurs, J.B.J. (Joyce) van, Vermeulen, S.H.H.M. (Sita), Viikari, J. (Jorma), Virtamo, J. (Jarmo), Vitart, V. (Veronique), Waeber, G. (Gérard), Wang, Z. (Zhaoming), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Winkelmann, B., Witteman, J.C.M. (Jacqueline), Wolffenbuttel, B.H.R. (Bruce), Wong, A. (Andrew), Wright, A.F. (Alan), Zillikens, M.C. (Carola), Amouyel, P. (Philippe), Boehm, B.O. (Bernhard), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Cupples, L.A. (Adrienne), Cusi, D. (Daniele), Dedoussis, G.V. (George), Erdmann, J. (Jeanette), Eriksson, J.G. (Johan), Franks, P.W. (Paul), Froguel, P. (Philippe), Gieger, C. (Christian), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Harris, T.B. (Tamara), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hingorani, A. (Aroon), Hinney, A. (Anke), Hofman, A. (Albert), Hovingh, G.K. (Kees), Hveem, K. (Kristian), Illig, T. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Jöckel, K.-H. (Karl-Heinz), Keinanen-Kiukaanniemi, S. (Sirkka), Kiemeney, L.A.L.M. (Bart), Kuh, D. (Diana), Laakso, M. (Markku), Lehtimäki, T. (Terho), Levinson, D.F. (Douglas), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Morris, A.D. (Andrew), Nieminen, M.S. (Markku), Njølstad, I. (Inger), Ohlsson, C. (Claes), Oldehinkel, A.J. (Albertine), Ouwehand, W.H. (Willem), Palmer, C. (Cameron), Penninx, B.W.J.H. (Brenda), Power, C. (Christopher), Province, M.A. (Mike), Psaty, B.M. (Bruce), Qi, L. (Lu), Rauramaa, R. (Rainer), Ridker, P.M. (Paul), Ripatti, S. (Samuli), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Snieder, H. (Harold), Sorensen, H.G., Spector, T.D. (Timothy), Zwart, J-A. (John-Anker), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Uusitupa, M. (Matti), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Wallaschofski, H. (Henri), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James F), Abecasis, G.R. (Gonçalo), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunian, T. (Talin), Heid, I.M. (Iris), Hunter, D. (David), Kaplan, R.C. (Robert), Karpe, F. (Fredrik), Moffatt, M.F. (Miriam), Mohlke, K.L. (Karen), O´Connell, J.R., Pawitan, Y. (Yudi), Schadt, E.E. (Eric), Schlessinger, D. (David), Steinthorsdottir, V. (Valgerdur), Strachan, D.P. (David), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Visscher, P.M. (Peter), Di Blasio, A.M. (Anna Maria), Hirschhorn, J.N. (Joel), Lindgren, C.M. (Cecilia), Meyre, D. (David), Scherag, A. (Andre), McCarthy, M.I. (Mark), Speliotes, E.K. (Elizabeth), North, K.E. (Kari), Loos, R.J.F. (Ruth), and Ingelsson, E. (Erik)
Abstract: Approaches exploiting trait distribution extremes may be used to identify loci associated with common traits, but it is unknown whether these loci are generalizable to the broader population. In a genome-wide search for loci associated with the upper versus the lower 5th percentiles of body mass index, height and waist-to-hip ratio, as well as clinical classes of obesity, including up to 263,407 individuals of European ancestry, we identified 4 new loci (IGFBP4, H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity. Further, we find a large overlap in genetic structure and the distribution of variants between traits based on extremes and the general population and little etiological heterogeneity between obesity subgroups.
Published: 2013
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16. Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropomet

Author: Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Kutalik, Z. (Zoltán), Berndt, S.I. (Sonja), Jackson, A.U. (Anne), Monda, K.L. (Keri), Kilpeläinen, T.O. (Tuomas), Esko, T. (Tõnu), Mägi, R. (Reedik), Li, S. (Shengxu), Workalemahu, T. (Tsegaselassie), Feitosa, M.F. (Mary Furlan), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Fall, M. (Magnus), Ferreira, T. (Teresa), Gustafsson, S. (Stefan), Locke, A.E. (Adam), Mathieson, I. (Iain), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Liang, L. (Liming), Steinthorsdottir, V. (Valgerdur), Thorleifsson, G. (Gudmar), Dermitzakis, E.T. (Emmanouil), Dimas, A.S. (Antigone), Karpe, F. (Fredrik), Min, J. (Josine), Nicholson, G. (Ggeorge), Clegg, D.J. (Deborah), Person, A.D. (Anthony), Krohn, J.P. (Jon), Bauer, S. (Stephanie), Buechler, C. (Christa), Eisinger, F. (François), Bonnefond, A. (Amélie), Froguel, P. (Philippe), Hottenga, J.J. (Jouke Jan), Prokopenko, I. (Inga), Waite, L. (Lindsay), Harris, T.B. (Tamara), Smith, A.V. (Davey), Shuldiner, A.R. (Alan), McArdle, W.L. (Wendy), Caulfield, M. (Mark), Munroe, P. (Patricia), Grönberg, H. (Henrik), Chen, Y.D.I. (Yii-Der Ida), Li, G. (Guo), Beckmann, J.S. (Jacques), Johnson, T. (Toby), Thorsteinsdottir, U. (Unnur), Teder-Laving, M. (Maris), Khaw, K-T. (Kay-Tee), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Oostra, B.A. (Ben), Kraja, A. (Aldi), Province, M.A. (Mike), Cupples, L.A. (Adrienne), Heard-Costa, N.L. (Nancy), Kaprio, J. (Jaakko), Ripatti, S. (Samuli), Surakka, I. (Ida), Collins, F.S. (Francis), Saramies, J. (Jouko), Tuomilehto, J. (Jaakko), Jula, A. (Antti), Salomaa, V. (Veikko), Erdmann, J. (Jeanette), Hengstenberg, C. (Christian), Loley, C. (Christina), Schunkert, H. (Heribert), Lamina, C. (Claudia), Wichmann, H.E. (Heinz Erich), Albrecht, E. (Eva), Gieger, C. (Christian), Hicks, A.A. (Andrew), Johansson, A. (Åsa), Pramstaller, P.P. (Peter Paul), Kathiresan, S. (Sekar), Speliotes, E.K. (Elizabeth), Penninx, B.W.J.H. (Brenda), Hartikainen, A.L., Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Wilson, J.F. (James), Chanock, S.J. (Stephen), Farrall, M. (Martin), Goel, A. (Anuj), Medina-Gomez, M.C. (Carolina), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Uitterlinden, A.G. (André), Hofman, A. (Albert), Zillikens, M.C. (Carola), Heijer, M. (Martin) den, Kiemeney, L.A.L.M. (Bart), Maschio, A., Hall, A.S. (Alistair), Tyrer, J.P. (Jonathan), Teumer, A. (Alexander), Völzke, H. (Henry), Kovacs, P. (Peter), Tönjes, A. (Anke), Mangino, M. (Massimo), Spector, T.D. (Timothy), Hayward, C. (Caroline), Rudan, I. (Igor), Hall, A. (Anne), Samani, N.J. (Nilesh), Attwood, A.P. (Antony), Sambrook, J.G. (Jennifer), Hung, J. (Judy), Palmer, C. (Cameron), Lokki, M.L., Sinisalo, J. (Juha), Boucher, G. (Gabrielle), Huikuri, H.V. (Heikki), Lorentzon, M. (Mattias), Ohlsson, C. (Claes), Eklund, N. (Niina), Hagen, K. (Knut), Barlassina, C. (Christina), Rivolta, C. (Carlo), Nolte, I.M. (Ilja), Snieder, H. (Harold), Klauw, M.M. (Melanie) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Gejman, P.V. (Pablo), Shi, J. (Jianxin), Jacobs, K.B. (Kevin), Wang, Z. (Zhaoming), Bakker, S.J.L. (Stephan), Leach, I.M. (Irene Mateo), Navis, G. (Gerjan), Harst, P. (Pim) van der, Martin, N.G. (Nicholas), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Yang, J. (Joanna), Chasman, D.I. (Daniel), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Lehtimäki, T. (Terho), Raitakari, O. (Olli), Absher, D. (Devin), Iribarren, C. (Carlos), Basart, D.C.G. (Dick), Hovingh, G.K. (Kees), Hyppönen, E. (Elina), Power, C. (Christopher), Beilby, J.P. (John), Hui, J. (Jennie), Jolley, G.J. (Jason), Sager, H. (Hendrik), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Kristiansson, K. (Kati), Perola, M. (Markus), Lindström, J. (Jaana), Swift, A.J. (Amy), Uusitupa, M. (Matti), Atalay, M. (Mustafa), Lakka, T.A. (Timo), Rauramaa, R. (Rainer), Bolton, J.L. (Jennifer), Fowkes, G. (Gerry), Fraser, R.M. (Ross), Price, J.F. (Jackie F.), Fischer, K. (Krista), KrjutÅkov, K. (Kaarel), Metspalu, A. (Andres), Mihailov, E. (Evelin), Langenberg, C. (Claudia), Luan, J., Ong, K.K. (Ken), Chines, P.S. (Peter), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Edkins, T. (Ted), Franks, P.W. (Paul), Hallmans, G. (Göran), Shungin, D. (Dmitry), Morris, A.D. (Andrew), Palmer, C.N.A. (Colin), Erbel, R. (Raimund), Moebus, S. (Susanne), Nöthen, M.M. (Markus), Pechlivanis, S. (Sonali), Hveem, K. (Kristian), Narisu, N. (Narisu), Hamsten, A. (Anders), Humphries, S.E. (Steve), Strawbridge, R.J. (Rona), Tremoli, E. (Elena), Grallert, H. (Harald), Thorand, B. (Barbara), Illig, T. (Thomas), Koenig, W. (Wolfgang), Müller-Nurasyid, M. (Martina), Peters, A. (Annette), Boehm, B.O. (Bernhard), Kleber, M.E. (Marcus), März, W. (Winfried), Winkelmann, B., Kuusisto, J. (Johanna), Laakso, M. (Markku), Arveiler, D. (Dominique), Cesana, G. (Giancarlo), Kuulasmaa, K. (Kari), Virtamo, J. (Jarmo), Yarnell, J.W.G. (John W.), Kuh, D. (Diana), Wong, A. (Andrew), Lind, L. (Lars), Faire, U. (Ulf) de, Gigante, B. (Bruna), Magnusson, P.K. (Patrik), Pedersen, N.L. (Nancy), Dedoussis, G.V. (George), Dimitriou, M. (Maria), Kolovou, G. (Genovefa), Kanoni, S. (Stavroula), Stirrups, K. (Kathy), Bonnycastle, L.L. (Lori), Njølstad, I. (Inger), Wilsgaard, T. (Tom), Ganna, A. (Andrea), Rehnberg, E. (Emil), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Abecasis, G.R. (Gonçalo), McCarthy, M.I. (Mark), Anderson, D. (Denise), Hirschhorn, J.N. (Joel), Qi, L. (Lu), Loos, R.J.F. (Ruth), Lindgren, C.M. (Cecilia), North, K.E. (Kari), Heid, I.M. (Iris), Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Kutalik, Z. (Zoltán), Berndt, S.I. (Sonja), Jackson, A.U. (Anne), Monda, K.L. (Keri), Kilpeläinen, T.O. (Tuomas), Esko, T. (Tõnu), Mägi, R. (Reedik), Li, S. (Shengxu), Workalemahu, T. (Tsegaselassie), Feitosa, M.F. (Mary Furlan), Croteau-Chonka, D.C. (Damien), Day, F.R. (Felix), Fall, M. (Magnus), Ferreira, T. (Teresa), Gustafsson, S. (Stefan), Locke, A.E. (Adam), Mathieson, I. (Iain), Scherag, A. (Andre), Vedantam, S. (Sailaja), Wood, A.R. (Andrew), Liang, L. (Liming), Steinthorsdottir, V. (Valgerdur), Thorleifsson, G. (Gudmar), Dermitzakis, E.T. (Emmanouil), Dimas, A.S. (Antigone), Karpe, F. (Fredrik), Min, J. (Josine), Nicholson, G. (Ggeorge), Clegg, D.J. (Deborah), Person, A.D. (Anthony), Krohn, J.P. (Jon), Bauer, S. (Stephanie), Buechler, C. (Christa), Eisinger, F. (François), Bonnefond, A. (Amélie), Froguel, P. (Philippe), Hottenga, J.J. (Jouke Jan), Prokopenko, I. (Inga), Waite, L. (Lindsay), Harris, T.B. (Tamara), Smith, A.V. (Davey), Shuldiner, A.R. (Alan), McArdle, W.L. (Wendy), Caulfield, M. (Mark), Munroe, P. (Patricia), Grönberg, H. (Henrik), Chen, Y.D.I. (Yii-Der Ida), Li, G. (Guo), Beckmann, J.S. (Jacques), Johnson, T. (Toby), Thorsteinsdottir, U. (Unnur), Teder-Laving, M. (Maris), Khaw, K-T. (Kay-Tee), Wareham, N.J. (Nick), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Oostra, B.A. (Ben), Kraja, A. (Aldi), Province, M.A. (Mike), Cupples, L.A. (Adrienne), Heard-Costa, N.L. (Nancy), Kaprio, J. (Jaakko), Ripatti, S. (Samuli), Surakka, I. (Ida), Collins, F.S. (Francis), Saramies, J. (Jouko), Tuomilehto, J. (Jaakko), Jula, A. (Antti), Salomaa, V. (Veikko), Erdmann, J. (Jeanette), Hengstenberg, C. (Christian), Loley, C. (Christina), Schunkert, H. (Heribert), Lamina, C. (Claudia), Wichmann, H.E. (Heinz Erich), Albrecht, E. (Eva), Gieger, C. (Christian), Hicks, A.A. (Andrew), Johansson, A. (Åsa), Pramstaller, P.P. (Peter Paul), Kathiresan, S. (Sekar), Speliotes, E.K. (Elizabeth), Penninx, B.W.J.H. (Brenda), Hartikainen, A.L., Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Wilson, J.F. (James), Chanock, S.J. (Stephen), Farrall, M. (Martin), Goel, A. (Anuj), Medina-Gomez, M.C. (Carolina), Rivadeneira Ramirez, F. (Fernando), Estrada Gil, K. (Karol), Uitterlinden, A.G. (André), Hofman, A. (Albert), Zillikens, M.C. (Carola), Heijer, M. (Martin) den, Kiemeney, L.A.L.M. (Bart), Maschio, A., Hall, A.S. (Alistair), Tyrer, J.P. (Jonathan), Teumer, A. (Alexander), Völzke, H. (Henry), Kovacs, P. (Peter), Tönjes, A. (Anke), Mangino, M. (Massimo), Spector, T.D. (Timothy), Hayward, C. (Caroline), Rudan, I. (Igor), Hall, A. (Anne), Samani, N.J. (Nilesh), Attwood, A.P. (Antony), Sambrook, J.G. (Jennifer), Hung, J. (Judy), Palmer, C. (Cameron), Lokki, M.L., Sinisalo, J. (Juha), Boucher, G. (Gabrielle), Huikuri, H.V. (Heikki), Lorentzon, M. (Mattias), Ohlsson, C. (Claes), Eklund, N. (Niina), Hagen, K. (Knut), Barlassina, C. (Christina), Rivolta, C. (Carlo), Nolte, I.M. (Ilja), Snieder, H. (Harold), Klauw, M.M. (Melanie) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Gejman, P.V. (Pablo), Shi, J. (Jianxin), Jacobs, K.B. (Kevin), Wang, Z. (Zhaoming), Bakker, S.J.L. (Stephan), Leach, I.M. (Irene Mateo), Navis, G. (Gerjan), Harst, P. (Pim) van der, Martin, N.G. (Nicholas), Medland, S.E. (Sarah), Montgomery, G.W. (Grant), Yang, J. (Joanna), Chasman, D.I. (Daniel), Ridker, P.M. (Paul), Rose, L.M. (Lynda), Lehtimäki, T. (Terho), Raitakari, O. (Olli), Absher, D. (Devin), Iribarren, C. (Carlos), Basart, D.C.G. (Dick), Hovingh, G.K. (Kees), Hyppönen, E. (Elina), Power, C. (Christopher), Beilby, J.P. (John), Hui, J. (Jennie), Jolley, G.J. (Jason), Sager, H. (Hendrik), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Kristiansson, K. (Kati), Perola, M. (Markus), Lindström, J. (Jaana), Swift, A.J. (Amy), Uusitupa, M. (Matti), Atalay, M. (Mustafa), Lakka, T.A. (Timo), Rauramaa, R. (Rainer), Bolton, J.L. (Jennifer), Fowkes, G. (Gerry), Fraser, R.M. (Ross), Price, J.F. (Jackie F.), Fischer, K. (Krista), KrjutÅkov, K. (Kaarel), Metspalu, A. (Andres), Mihailov, E. (Evelin), Langenberg, C. (Claudia), Luan, J., Ong, K.K. (Ken), Chines, P.S. (Peter), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Edkins, T. (Ted), Franks, P.W. (Paul), Hallmans, G. (Göran), Shungin, D. (Dmitry), Morris, A.D. (Andrew), Palmer, C.N.A. (Colin), Erbel, R. (Raimund), Moebus, S. (Susanne), Nöthen, M.M. (Markus), Pechlivanis, S. (Sonali), Hveem, K. (Kristian), Narisu, N. (Narisu), Hamsten, A. (Anders), Humphries, S.E. (Steve), Strawbridge, R.J. (Rona), Tremoli, E. (Elena), Grallert, H. (Harald), Thorand, B. (Barbara), Illig, T. (Thomas), Koenig, W. (Wolfgang), Müller-Nurasyid, M. (Martina), Peters, A. (Annette), Boehm, B.O. (Bernhard), Kleber, M.E. (Marcus), März, W. (Winfried), Winkelmann, B., Kuusisto, J. (Johanna), Laakso, M. (Markku), Arveiler, D. (Dominique), Cesana, G. (Giancarlo), Kuulasmaa, K. (Kari), Virtamo, J. (Jarmo), Yarnell, J.W.G. (John W.), Kuh, D. (Diana), Wong, A. (Andrew), Lind, L. (Lars), Faire, U. (Ulf) de, Gigante, B. (Bruna), Magnusson, P.K. (Patrik), Pedersen, N.L. (Nancy), Dedoussis, G.V. (George), Dimitriou, M. (Maria), Kolovou, G. (Genovefa), Kanoni, S. (Stavroula), Stirrups, K. (Kathy), Bonnycastle, L.L. (Lori), Njølstad, I. (Inger), Wilsgaard, T. (Tom), Ganna, A. (Andrea), Rehnberg, E. (Emil), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C. (Craig), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D. (David), Ingelsson, E. (Erik), Kaplan, R.C. (Robert), Mohlke, K.L. (Karen), O´Connell, J.R., Schlessinger, D. (David), Strachan, D.P. (David), Zwart, J-A. (John-Anker), Duijn, C.M. (Cornelia) van, Abecasis, G.R. (Gonçalo), McCarthy, M.I. (Mark), Anderson, D. (Denise), Hirschhorn, J.N. (Joel), Qi, L. (Lu), Loos, R.J.F. (Ruth), Lindgren, C.M. (Cecilia), North, K.E. (Kari), and Heid, I.M. (Iris)
Published: 2013
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17. Common variants in mendelian kidney disease genes and their association with renal function

Author: Parsa, A. (Afshin), Fuchsberger, C. (Christian), Köttgen, A. (Anna), O'Seaghdha, C.M. (Conall), Pattaro, C. (Cristian), Andrade, M. (Mariza) de, Chasman, D.I. (Daniel), Teumer, A. (Alexander), Endlich, K. (Karlhans), Olden, M. (Matthias), Chen, M-H. (Ming-Huei), Tin, A. (Adrienne), Kim, Y-J. (Yong-Jin), Taliun, D. (Daniel), Li, M. (Man), Feitosa, M.F. (Mary Furlan), Gorski, M. (Mathias), Yang, Q. (Qiong), Hundertmark, C. (Claudia), Foster, M.C. (Michael), Glazer, N. (Nicole), Isaacs, A.J. (Aaron), Rao, M. (Madhumathi), Smith, A.V. (Davey), O´Connell, J.R., Struchalin, M.V. (Maksim), Tanaka, T. (Toshiko), Li, G. (Guo), Hwang, S.J., Atkinson, E.J. (Elizabeth), Lohman, K. (Kurt), Cornelis, M. (Marilyn), Johansson, A. (Åsa), Tönjes, A. (Anke), Dehghan, A. (Abbas), Couraki, V. (Vincent), Holliday, E.G. (Elizabeth), Sorice, R., Kutalik, Z. (Zoltán), Lehtimäki, T. (Terho), Esko, T. (Tõnu), Deshmukh, H. (Harshal), Ulivi, S. (Shelia), Chu, A.Y. (Audrey), Murgia, D. (Daniela), Trompet, S. (Stella), Imboden, M. (Medea), Kollerits, B. (Barbara), Pistis, G. (Giorgio), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Mitchell, B.D. (Braxton), Boerwinkle, E.A. (Eric), Schmidt, H. (Helena), Hofer, E. (Edith), Hu, F.B. (Frank), Demirkan, A. (Ayşe), Oostra, B.A. (Ben), Turner, S.T. (Stephen), Ding, J. (Jingzhong), Andrews, J.S. (Jeanette), Freedman, B.I. (Barry), Giulianini, F. (Franco), Koenig, W. (Wolfgang), Illig, T. (Thomas), Döring, A. (Angela), Wichmann, H.E. (Heinz Erich), Zgaga, L. (Lina), Zemunik, T. (Tatijana), Boban, M. (Mladen), Minelli, C. (Cosetta), Wheeler, H.E. (Heather), Igl, W. (Wilmar), Zaboli, G. (Ghazal), Wild, S.H. (Sarah), Wright, A.F. (Alan), Campbell, H. (Harry), Ellinghaus, D. (David), Nöthlings, U. (Ute), Jacobs, G. (Gunnar), Biffar, R. (Reiner), Ernst, F.D.J. (Florian), Homuth, G. (Georg), Kroemer, H.K. (Heyo), Nauck, M. (Matthias), Stracke, S. (Sylvia), Vol̈ker, U. (Uwe), Völzke, H. (Henry), Kovacs, P. (Peter), Stumvoll, M. (Michael), Mägi, R. (Reedik), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Aulchenko, Y.S. (Yurii), Polasek, O. (Ozren), Hastie, N. (Nick), Vitart, V. (Veronique), Helmer, C. (Catherine), Wang, J.J. (Jie Jin), Stengel, B. (Bernd), Ruggiero, D., Bergmann, S.M. (Sven), Kähönen, M. (Mika), Viikari, J. (Jorma), Nikopensius, T. (Tiit), Province, M.A. (Mike), Colhoun, H.M. (H.), Doney, A.S.F. (Alex), Robino, A. (Antonietta), Krämer, B.K. (Bernhard), Portas, L. (Laura), Ford, I. (Ian), Buckley, B.M. (Brendan M.), Adam, M. (Martin), Thun, G.-A. (Gian-Andri), Paulweber, B. (Bernhard), Haun, M. (Margot), Sala, C. (Cinzia), Mitchell, P. (Paul), Ciullo, M., Vollenweider, P. (Peter), Raitakari, O. (Olli), Metspalu, A. (Andres), Palmer, C.N.A. (Colin), Gasparini, P. (Paolo), Pirastu, M. (Mario), Jukema, J.W. (Jan Wouter), Probst-Hensch, N.M. (Nicole M.), Kronenberg, F. (Florian), Toniolo, D. (Daniela), Gudnason, V. (Vilmundur), Shuldiner, A.R. (Alan), Coresh, J. (Josef), Schmidt, R. (Reinhold), Ferrucci, L. (Luigi), Duijn, C.M. (Cornelia) van, Borecki, I.B. (Ingrid), Kardia, S.L.R. (Sharon), Liu, Y. (YongMei), Curhan, G.C. (Gary), Rudan, I. (Igor), Gyllensten, U. (Ulf), Wilson, J.F. (James), Franke, A. (Andre), Pramstaller, P.P. (Peter Paul), Rettig, R. (Rainer), Prokopenko, I. (Inga), Witteman, J.C.M. (Jacqueline), Hayward, C. (Caroline), Ridker, P.M. (Paul), Bochud, M. (Murielle), Heid, I.M. (Iris), Siscovick, D.S. (David), Fox, C.S. (Caroline), Kao, W.H.L. (Wen), Böger, C.A. (Carsten), Parsa, A. (Afshin), Fuchsberger, C. (Christian), Köttgen, A. (Anna), O'Seaghdha, C.M. (Conall), Pattaro, C. (Cristian), Andrade, M. (Mariza) de, Chasman, D.I. (Daniel), Teumer, A. (Alexander), Endlich, K. (Karlhans), Olden, M. (Matthias), Chen, M-H. (Ming-Huei), Tin, A. (Adrienne), Kim, Y-J. (Yong-Jin), Taliun, D. (Daniel), Li, M. (Man), Feitosa, M.F. (Mary Furlan), Gorski, M. (Mathias), Yang, Q. (Qiong), Hundertmark, C. (Claudia), Foster, M.C. (Michael), Glazer, N. (Nicole), Isaacs, A.J. (Aaron), Rao, M. (Madhumathi), Smith, A.V. (Davey), O´Connell, J.R., Struchalin, M.V. (Maksim), Tanaka, T. (Toshiko), Li, G. (Guo), Hwang, S.J., Atkinson, E.J. (Elizabeth), Lohman, K. (Kurt), Cornelis, M. (Marilyn), Johansson, A. (Åsa), Tönjes, A. (Anke), Dehghan, A. (Abbas), Couraki, V. (Vincent), Holliday, E.G. (Elizabeth), Sorice, R., Kutalik, Z. (Zoltán), Lehtimäki, T. (Terho), Esko, T. (Tõnu), Deshmukh, H. (Harshal), Ulivi, S. (Shelia), Chu, A.Y. (Audrey), Murgia, D. (Daniela), Trompet, S. (Stella), Imboden, M. (Medea), Kollerits, B. (Barbara), Pistis, G. (Giorgio), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Mitchell, B.D. (Braxton), Boerwinkle, E.A. (Eric), Schmidt, H. (Helena), Hofer, E. (Edith), Hu, F.B. (Frank), Demirkan, A. (Ayşe), Oostra, B.A. (Ben), Turner, S.T. (Stephen), Ding, J. (Jingzhong), Andrews, J.S. (Jeanette), Freedman, B.I. (Barry), Giulianini, F. (Franco), Koenig, W. (Wolfgang), Illig, T. (Thomas), Döring, A. (Angela), Wichmann, H.E. (Heinz Erich), Zgaga, L. (Lina), Zemunik, T. (Tatijana), Boban, M. (Mladen), Minelli, C. (Cosetta), Wheeler, H.E. (Heather), Igl, W. (Wilmar), Zaboli, G. (Ghazal), Wild, S.H. (Sarah), Wright, A.F. (Alan), Campbell, H. (Harry), Ellinghaus, D. (David), Nöthlings, U. (Ute), Jacobs, G. (Gunnar), Biffar, R. (Reiner), Ernst, F.D.J. (Florian), Homuth, G. (Georg), Kroemer, H.K. (Heyo), Nauck, M. (Matthias), Stracke, S. (Sylvia), Vol̈ker, U. (Uwe), Völzke, H. (Henry), Kovacs, P. (Peter), Stumvoll, M. (Michael), Mägi, R. (Reedik), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Aulchenko, Y.S. (Yurii), Polasek, O. (Ozren), Hastie, N. (Nick), Vitart, V. (Veronique), Helmer, C. (Catherine), Wang, J.J. (Jie Jin), Stengel, B. (Bernd), Ruggiero, D., Bergmann, S.M. (Sven), Kähönen, M. (Mika), Viikari, J. (Jorma), Nikopensius, T. (Tiit), Province, M.A. (Mike), Colhoun, H.M. (H.), Doney, A.S.F. (Alex), Robino, A. (Antonietta), Krämer, B.K. (Bernhard), Portas, L. (Laura), Ford, I. (Ian), Buckley, B.M. (Brendan M.), Adam, M. (Martin), Thun, G.-A. (Gian-Andri), Paulweber, B. (Bernhard), Haun, M. (Margot), Sala, C. (Cinzia), Mitchell, P. (Paul), Ciullo, M., Vollenweider, P. (Peter), Raitakari, O. (Olli), Metspalu, A. (Andres), Palmer, C.N.A. (Colin), Gasparini, P. (Paolo), Pirastu, M. (Mario), Jukema, J.W. (Jan Wouter), Probst-Hensch, N.M. (Nicole M.), Kronenberg, F. (Florian), Toniolo, D. (Daniela), Gudnason, V. (Vilmundur), Shuldiner, A.R. (Alan), Coresh, J. (Josef), Schmidt, R. (Reinhold), Ferrucci, L. (Luigi), Duijn, C.M. (Cornelia) van, Borecki, I.B. (Ingrid), Kardia, S.L.R. (Sharon), Liu, Y. (YongMei), Curhan, G.C. (Gary), Rudan, I. (Igor), Gyllensten, U. (Ulf), Wilson, J.F. (James), Franke, A. (Andre), Pramstaller, P.P. (Peter Paul), Rettig, R. (Rainer), Prokopenko, I. (Inga), Witteman, J.C.M. (Jacqueline), Hayward, C. (Caroline), Ridker, P.M. (Paul), Bochud, M. (Murielle), Heid, I.M. (Iris), Siscovick, D.S. (David), Fox, C.S. (Caroline), Kao, W.H.L. (Wen), and Böger, C.A. (Carsten)
Abstract: Many common genetic variants identified by genome-wide association studies for complex traitsmap to genes previously linked to rare inherited Mendelian disorders. A systematic analysis of common single-nucleotide polymorphisms (SNPs) in genes responsible for Mendelian diseases with kidney phenotypes has not been performed. We thus developed a comprehensive database of genes for Mendelian kidney conditions and evaluated the association between common genetic variants within these genes and kidney function in the general population. Using the Online Mendelian Inheritance in Man database, we identified 731 unique disease entries related to specific renal search terms and confirmed a kidney phenotype in 218 of these entries, corresponding to mutations in 258 genes. We interrogated common SNPs (minor allele frequency >5%) within these genes for association with the estimated GFR in 74,354 European-ancestry participants from the CKDGen Consortium. However, the top four candidate SNPs (rs6433115 at LRP2, rs1050700 at TSC1, rs249942 at PALB2, and rs9827843 at ROBO2) did not achieve significance in a stage 2meta-analysis performed in 56,246 additional independent individuals, indicating that these common SNPs are not associated with estimated GFR. The effect of less common or rare variants in these genes on kidney function in the general population and disease-specific cohorts requires further research. Copyright
Published: 2013
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18. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: A multi-ethnic meta-analysis of 45,891 individuals

Author: Dastani, Z. (Zari), Hivert, M.-F. (Marie-France), Timpson, N.J. (Nicholas), Perry, J.R.B. (John), Yuan, X. (Xin), Scott, R.A. (Robert), Hennemann, P. (Peter), Heid, I.M. (Iris), Kizer, J.R. (Jorge), Lyytikäinen, L.-P. (Leo-Pekka), Fuchsberger, C. (Christian), Tanaka, T. (Toshiko), Morris, A.P. (Andrew), Small, K.S. (Kerrin), Isaacs, A.J. (Aaron), Beekman, M. (Marian), Coassin, S. (Stefan), Lohman, K. (Kurt), Qi, L. (Lu), Kanoni, S. (Stavroula), Pankow, J.S. (James), Uh, H.-W. (Hae-Won), Wu, Y. (Ying), Bidulescu, A. (Aurelian), Rasmussen-Torvik, L.J. (Laura), Greenwood, C.M.T. (Celia), Ladouceur, M. (Martin), Grimsby, J.L. (Jonna), Manning, A.K. (Alisa), Liu, C.-T. (Ching-Ti), Kooner, J.S. (Jaspal), Mooser, V. (Vincent), Vollenweider, P. (Peter), Kapur, K. (Karen), Chambers, J. (John), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Frants, R.R. (Rune), Willems van Dijk, J.A.P. (Ko), Oostra, B.A. (Ben), Willems, S.M. (Sara), Lamina, C. (Claudia), Winkler, T.W. (Thomas), Psaty, B.M. (Bruce), Tracy, R.P. (Russell), Brody, J.A. (Jennifer A.), Chen, I. (Ida), Viikari, J. (Jorma), Kähönen, M. (Mika), Pramstaller, P.P. (Peter Paul), Evans, D.M. (David), St Pourcain, B. (Beate), Sattar, N. (Naveed), Wood, A.R. (Andrew), Bandinelli, S. (Stefania), Carlson, O.D. (Olga), Egan, J.M. (Josephine), Böhringer, S. (Stefan), Heemst, D. (Diana) van, Kedenko, L. (Lyudmyla), Kristiansson, K. (Kati), Nuotio, M.-L. (Marja-Liisa), Loo, B.-M. (Britt-Marie), Harris, T.B. (Tamara), Garcia, M. (Melissa), Kanaya, A. (Alka), Haun, M. (Margot), Klopp, N. (Norman), Wichmann, H.E. (Erich), Deloukas, P. (Panagiotis), Katsareli, E. (Efi), Couper, D.J. (David), Duncan, B.B. (Bruce), Kloppenburg, M. (Margreet), Adair, L.S. (Linda), Borja, J.B. (Judith), Wilson, J.G. (James), Musani, S. (Solomon), Guo, X. (Xiuqing), Johnson, T. (Toby), Semple, R.K. (Robert), Teslovich, T.M. (Tanya), Allison, M.A. (Matthew), Redline, S. (Susan), Buxbaum, S.G. (Sarah), Mohlke, K.L. (Karen), Meulenbelt, I. (Ingrid), Ballantyne, C. (Christie), Dedoussis, G.V. (George), Hu, F.B. (Frank), Liu, Y. (YongMei), Paulweber, B. (Bernhard), Spector, T.D. (Timothy), Slagboom, P.E. (Eline), Ferrucci, L. (Luigi), Jula, A. (Antti), Perola, M. (Markus), Raitakari, O.T. (Olli T.), Florez, J.C. (Jose), Salomaa, V. (Veikko), Eriksson, J.G. (Johan), Frayling, T.M. (Timothy), Hicks, A.A. (Andrew), Lehtimäki, T. (Terho), Smith, G.D. (George Davey), Siscovick, D.S. (David), Kronenberg, F. (Florian), Duijn, C.M. (Cornelia) van, Loos, R.J.F. (Ruth), Waterworth, D.M. (Dawn), Meigs, J.B. (James), Dupuis, J. (Josée), Richards, J.B. (Brent), Dastani, Z. (Zari), Hivert, M.-F. (Marie-France), Timpson, N.J. (Nicholas), Perry, J.R.B. (John), Yuan, X. (Xin), Scott, R.A. (Robert), Hennemann, P. (Peter), Heid, I.M. (Iris), Kizer, J.R. (Jorge), Lyytikäinen, L.-P. (Leo-Pekka), Fuchsberger, C. (Christian), Tanaka, T. (Toshiko), Morris, A.P. (Andrew), Small, K.S. (Kerrin), Isaacs, A.J. (Aaron), Beekman, M. (Marian), Coassin, S. (Stefan), Lohman, K. (Kurt), Qi, L. (Lu), Kanoni, S. (Stavroula), Pankow, J.S. (James), Uh, H.-W. (Hae-Won), Wu, Y. (Ying), Bidulescu, A. (Aurelian), Rasmussen-Torvik, L.J. (Laura), Greenwood, C.M.T. (Celia), Ladouceur, M. (Martin), Grimsby, J.L. (Jonna), Manning, A.K. (Alisa), Liu, C.-T. (Ching-Ti), Kooner, J.S. (Jaspal), Mooser, V. (Vincent), Vollenweider, P. (Peter), Kapur, K. (Karen), Chambers, J. (John), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Frants, R.R. (Rune), Willems van Dijk, J.A.P. (Ko), Oostra, B.A. (Ben), Willems, S.M. (Sara), Lamina, C. (Claudia), Winkler, T.W. (Thomas), Psaty, B.M. (Bruce), Tracy, R.P. (Russell), Brody, J.A. (Jennifer A.), Chen, I. (Ida), Viikari, J. (Jorma), Kähönen, M. (Mika), Pramstaller, P.P. (Peter Paul), Evans, D.M. (David), St Pourcain, B. (Beate), Sattar, N. (Naveed), Wood, A.R. (Andrew), Bandinelli, S. (Stefania), Carlson, O.D. (Olga), Egan, J.M. (Josephine), Böhringer, S. (Stefan), Heemst, D. (Diana) van, Kedenko, L. (Lyudmyla), Kristiansson, K. (Kati), Nuotio, M.-L. (Marja-Liisa), Loo, B.-M. (Britt-Marie), Harris, T.B. (Tamara), Garcia, M. (Melissa), Kanaya, A. (Alka), Haun, M. (Margot), Klopp, N. (Norman), Wichmann, H.E. (Erich), Deloukas, P. (Panagiotis), Katsareli, E. (Efi), Couper, D.J. (David), Duncan, B.B. (Bruce), Kloppenburg, M. (Margreet), Adair, L.S. (Linda), Borja, J.B. (Judith), Wilson, J.G. (James), Musani, S. (Solomon), Guo, X. (Xiuqing), Johnson, T. (Toby), Semple, R.K. (Robert), Teslovich, T.M. (Tanya), Allison, M.A. (Matthew), Redline, S. (Susan), Buxbaum, S.G. (Sarah), Mohlke, K.L. (Karen), Meulenbelt, I. (Ingrid), Ballantyne, C. (Christie), Dedoussis, G.V. (George), Hu, F.B. (Frank), Liu, Y. (YongMei), Paulweber, B. (Bernhard), Spector, T.D. (Timothy), Slagboom, P.E. (Eline), Ferrucci, L. (Luigi), Jula, A. (Antti), Perola, M. (Markus), Raitakari, O.T. (Olli T.), Florez, J.C. (Jose), Salomaa, V. (Veikko), Eriksson, J.G. (Johan), Frayling, T.M. (Timothy), Hicks, A.A. (Andrew), Lehtimäki, T. (Terho), Smith, G.D. (George Davey), Siscovick, D.S. (David), Kronenberg, F. (Florian), Duijn, C.M. (Cornelia) van, Loos, R.J.F. (Ruth), Waterworth, D.M. (Dawn), Meigs, J.B. (James), Dupuis, J. (Josée), and Richards, J.B. (Brent)
Abstract: Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a meta-analysis of genome-wide association studies in 39,883 individuals of European ancestry to identify genes associated with metabolic disease. We identified 8 novel loci associated with adiponectin levels and confirmed 2 previously reported loci (P = 4.5×10−8- 1.2 ×10−43). Using a novel method to combine data across ethnicities (N = 4,232 African Americans, N = 1,776 Asians, and N = 29,347 Europeans), we identified two additional novel loci. Expression analyses of 436 human adipocyte samples revealed that mRNA levels of 18 genes at candidate regions were associated with adiponectin concentrations after accounting for multiple testing (p<3×10−4). We next developed a multi-SNP genotypic risk score to test the association of adiponectin decreasing risk alleles on metabolic traits and diseases using consortia-level meta-analytic data. This risk score was associated with increased risk of T2D (p = 4.3×10−3, n = 22,044), increased triglycerides (p = 2.6×10−14, n = 93,440), increased waist-to-hip ratio (p = 1.8×10−5, n = 77,167), increased glucose two hours post oral glucose tolerance testing (p = 4.4×10−3, n = 15,234), increased fasting insulin (p = 0.015, n = 48,238), but with lower in HDL- choles
Published: 2012
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19. Genome-wide meta-analysis of common variant differences between men and women

Author: Boraska, V. (Vesna), Jerončić, A. (Ana), Colonna, V. (Vincenza), Southam, L. (Lorraine), Nyholt, D.R. (Dale), Rayner, N.W. (Nigel William), Perry, J.R.B. (John), Toniolo, D. (Daniela), Albrecht, E. (Eva), Ang, W.Q. (Wei), Bandinelli, S. (Stefania), Barbalic, M. (maja), Barroso, I.E. (Inês), Beckmann, J.S. (Jacques), Biffar, R. (Reiner), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Corre, T. (Tanguy), Erdmann, J. (Jeanette), Esko, T. (Tõnu), Fischer, K. (Krista), Franceschini, N. (Nora), Frayling, T.M. (Timothy), Girotto, S., Gonzalez, J.R. (Juan), Harris, T.B. (Tamara), Heath, A.C. (Andrew), Heid, I.M. (Iris), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Horikoshi, M. (Momoko), Zhao, J.H. (Jing Hua), Jackson, A.U. (Anne), Hottenga, J.J. (Jouke Jan), Jula, A. (Antti), Kähönen, M. (Mika), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Klopp, N. (Norman), Kutalik, Z. (Zoltán), Lagou, V. (Vasiliki), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Lemire, M. (Mathieu), Lokki, M.L., Loley, C. (Christina), Luan, J., Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Montgomery, G.W. (Grant), Navis, G. (Gerjan), Newnham, J.P. (John), Nieminen, M.S. (Markku), Palotie, A. (Aarno), Panoutsopoulou, K. (Kalliope), Peters, A. (Annette), Pirastu, N. (Nicola), Polasek, O. (Ozren), Rehnström, K. (Karola), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Samani, N.J. (Nilesh), Shin, S.-Y., Sinisalo, J. (Juha), Smith, A.V. (Davey), Soranzo, N. (Nicole), Stolk, L. (Lisette), Swinkels, D.W. (Dorine), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Tönjes, A. (Anke), Traglia, M. (Michela), Tuomilehto, J. (Jaakko), Valsesia, A. (Armand), Gilst, W.H. (Wiek) van, Meurs, J.B.J. (Joyce) van, Viikari, J. (Jorma), Vink, J.M. (Jacqueline), Waeber, G. (Gérard), Warrington, N.M. (Nicole), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wright, A.F. (Alan), Zanke, C. (Christof), Zgaga, L. (Lina), Boehnke, M. (Michael), Adamo, P. (Pio) d', Geus, E.J.C. (Eco) de, Demerath, E.W. (Ellen), Heijer, M. (Martin) den, Hagen, K. (Knut), Ferrucci, L. (Luigi), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Hayward, C. (Caroline), Hengstenberg, C. (Christian), Hudson, T.J. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Kogevinas, M. (Manolis), Loos, R.J.F. (Ruth), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Pennell, C.E. (Craig), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Raitakari, O. (Olli), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Spector, T.D. (Timothy), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Ulivi, S. (Shelia), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Völzke, H. (Henry), Wareham, N.J. (Nick), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James), Rudan, I. (Igor), Xue, Y. (Yali), Zeggini, E. (Eleftheria), Ritchie, G.R.S. (Graham), Boraska, V. (Vesna), Jerončić, A. (Ana), Colonna, V. (Vincenza), Southam, L. (Lorraine), Nyholt, D.R. (Dale), Rayner, N.W. (Nigel William), Perry, J.R.B. (John), Toniolo, D. (Daniela), Albrecht, E. (Eva), Ang, W.Q. (Wei), Bandinelli, S. (Stefania), Barbalic, M. (maja), Barroso, I.E. (Inês), Beckmann, J.S. (Jacques), Biffar, R. (Reiner), Boomsma, D.I. (Dorret), Campbell, H. (Harry), Corre, T. (Tanguy), Erdmann, J. (Jeanette), Esko, T. (Tõnu), Fischer, K. (Krista), Franceschini, N. (Nora), Frayling, T.M. (Timothy), Girotto, S., Gonzalez, J.R. (Juan), Harris, T.B. (Tamara), Heath, A.C. (Andrew), Heid, I.M. (Iris), Hoffmann, W. (Wolfgang), Hofman, A. (Albert), Horikoshi, M. (Momoko), Zhao, J.H. (Jing Hua), Jackson, A.U. (Anne), Hottenga, J.J. (Jouke Jan), Jula, A. (Antti), Kähönen, M. (Mika), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Klopp, N. (Norman), Kutalik, Z. (Zoltán), Lagou, V. (Vasiliki), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Lemire, M. (Mathieu), Lokki, M.L., Loley, C. (Christina), Luan, J., Mangino, M. (Massimo), Leach, I.M. (Irene Mateo), Medland, S.E. (Sarah), Mihailov, E. (Evelin), Montgomery, G.W. (Grant), Navis, G. (Gerjan), Newnham, J.P. (John), Nieminen, M.S. (Markku), Palotie, A. (Aarno), Panoutsopoulou, K. (Kalliope), Peters, A. (Annette), Pirastu, N. (Nicola), Polasek, O. (Ozren), Rehnström, K. (Karola), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robino, A. (Antonietta), Samani, N.J. (Nilesh), Shin, S.-Y., Sinisalo, J. (Juha), Smith, A.V. (Davey), Soranzo, N. (Nicole), Stolk, L. (Lisette), Swinkels, D.W. (Dorine), Tanaka, T. (Toshiko), Teumer, A. (Alexander), Tönjes, A. (Anke), Traglia, M. (Michela), Tuomilehto, J. (Jaakko), Valsesia, A. (Armand), Gilst, W.H. (Wiek) van, Meurs, J.B.J. (Joyce) van, Viikari, J. (Jorma), Vink, J.M. (Jacqueline), Waeber, G. (Gérard), Warrington, N.M. (Nicole), Widen, E. (Elisabeth), Willemsen, G.A.H.M. (Gonneke), Wright, A.F. (Alan), Zanke, C. (Christof), Zgaga, L. (Lina), Boehnke, M. (Michael), Adamo, P. (Pio) d', Geus, E.J.C. (Eco) de, Demerath, E.W. (Ellen), Heijer, M. (Martin) den, Hagen, K. (Knut), Ferrucci, L. (Luigi), Gieger, C. (Christian), Gudnason, V. (Vilmundur), Hayward, C. (Caroline), Hengstenberg, C. (Christian), Hudson, T.J. (Thomas), Jarvelin, M.-R. (Marjo-Riitta), Kogevinas, M. (Manolis), Loos, R.J.F. (Ruth), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Pennell, C.E. (Craig), Penninx, B.W.J.H. (Brenda), Perola, M. (Markus), Raitakari, O. (Olli), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Spector, T.D. (Timothy), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Ulivi, S. (Shelia), Harst, P. (Pim) van der, Vollenweider, P. (Peter), Völzke, H. (Henry), Wareham, N.J. (Nick), Wichmann, H.E. (Heinz Erich), Wilson, J.F. (James), Rudan, I. (Igor), Xue, Y. (Yali), Zeggini, E. (Eleftheria), and Ritchie, G.R.S. (Graham)
Abstract: The male-to-female sex ratio at birth is constant across world populations with an average of 1.06 (106 male to 100 female live births) for populations of European descent. The sex ratio is considered to be affected by numerous biological and environmental factors and to have a heritable component. The aim of this study was to investigate the presence of common allele modest effects at autosomal and chromosome X variants that could explain the observed sex ratio at birth. We conducted a large-scale genome-wide association scan (GWAS) meta-analysis across 51 studies, comprising overall 114 863 individuals (61 094 women and 53 769 men) of European ancestry and 2 623 828 common (minor allele frequency >0.05) single-nucleotide polymorphisms (SNPs). Allele frequencies were compared between men and women for directly-typed and imputed variants within each study. Forward-time simulations for unlinked, neutral, autosomal, common loci were performed under the demographic model for European populations with a fixed sex ratio and a random mating scheme to assess the probability of detecting significant allele frequency differences. We do not detect any genome-wide significant (P < 5 × 10-8) common SNP differences between men and women in this well-powered meta-analysis. The simulated data provided results entirely consistent with these findings. This large-scale investigation across ~115 000 individuals shows no detectable contribution from common genetic variants to the observed skew in the sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.
Published: 2012
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20. Genome-wide association and functional follow-up reveals new loci for kidney function

Author: Pattaro, C. (Cristian), Köttgen, A. (Anna), Teumer, A. (Alexander), Böger, C.A. (Carsten), Fuchsberger, C. (Christian), Olden, M. (Matthias), Chen, M-H. (Ming-Huei), Li, M. (Man), Gao, X. (Xiaoyi), Gorski, M. (Mathias), Yang, Q. (Qiong Fang), O'Seaghdha, C.M. (Conall), Glazer, N.L. (Nicole), Isaacs, A.J. (Aaron), Liu, C.-T. (Ching-Ti), Smith, A.V. (Albert Vernon), O´Connell, J.R., Struchalin, M.V. (Maksim), Tanaka, T. (Toshiko), Johnson, A.D. (Andrew), Feitosa, M.F. (Mary Furlan), Hwang, S.J., Lohman, K. (Kurt), Cornelis, M. (Marilyn), Johansson, A. (Åsa), Tönjes, A. (Anke), Dehghan, A. (Abbas), Chouraki, V. (Vincent), Holliday, E.G. (Elizabeth), Sorice, R., Kutalik, Z. (Zoltán), Lehtimäki, T. (Terho), Esko, T. (Tõnu), Ulivi, S. (Shelia), Trompet, S. (Stella), Imboden, M. (Medea), Kollerits, B. (Barbara), Pistis, G. (Giorgio), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Mitchell, B.D. (Braxton), Boerwinkle, E.A. (Eric), Schmidt, R. (Reinhold), Cavalieri, M. (Margherita), Hu, F.B. (Frank), Demirkan, A. (Ayşe), Oostra, B.A. (Ben), Andrade, M. (Mariza) de, Andrews, J.S. (Jeanette), Koenig, W. (Wolfgang), Illig, T. (Thomas), Döring, A. (Angela), Wichmann, H.E. (Erich), Kolcic, I. (Ivana), Zemunik, T. (Tatijana), Boban, M. (Mladen), Igl, W. (Wilmar), Zaboli, G. (Ghazal), Wild, S.H. (Sarah), Wright, A.F. (Alan), Campbell, H. (Harry), Biffar, R. (Reiner), Ernst, F.D.J. (Florian), Homuth, G. (Georg), Kroemer, H.K. (Heyo), Nauck, M. (Matthias), Kovacs, P. (Peter), Stumvoll, M. (Michael), Mägi, R. (Reedik), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Aulchenko, Y.S. (Yurii), Polasek, O. (Ozren), Hastie, N. (Nick), Vitart, V. (Veronique), Wang, J.J. (Jie Jin), Bergmann, S.M. (Sven), Kähönen, M. (Mika), Viikari, J. (Jorma), Province, M.A. (Mike), Ketkar, S. (Shamika), Doney, A.S.F. (Alex), Ford, I. (Ian), Buckley, B.M. (Brendan M.), Paulweber, B. (Bernhard), Haun, M. (Margot), Sala, C. (Cinzia), Ciullo, M., Vollenweider, P. (Peter), Raitakari, O. (Olli), Metspalu, A. (Andres), Palmer, C.N.A. (Colin), Gasparini, P. (Paolo), Jukema, J.W. (Jan Wouter), Kronenberg, F. (Florian), Toniolo, D. (Daniela), Gudnason, V. (Vilmundur), Shuldiner, A.R. (Alan), Coresh, J. (Josef), Ferrucci, L. (Luigi), Siscovick, D.S. (David), Tikka-Kleemola, P. (Päivi), Borecki, I.B. (Ingrid), Kardia, S.L.R. (Sharon), Curhan, G.C. (Gary), Rudan, I. (Igor), Gyllensten, U. (Ulf), Wilson, J.F. (James), Franke, A. (Andre), Pramstaller, P.P. (Peter Paul), Rettig, R. (Rainer), Prokopenko, I. (Inga), Witteman, J.C.M. (Jacqueline), Hayward, C. (Caroline), Ridker, P.M. (Paul), Parsa, A. (Afshin), Bochud, M. (Murielle), Heid, I.M. (Iris), Goessling, W. (Wolfram), Chasman, D.I. (Daniel), Kao, W.H.L. (Wen), Fox, C.S. (Caroline), Pattaro, C. (Cristian), Köttgen, A. (Anna), Teumer, A. (Alexander), Böger, C.A. (Carsten), Fuchsberger, C. (Christian), Olden, M. (Matthias), Chen, M-H. (Ming-Huei), Li, M. (Man), Gao, X. (Xiaoyi), Gorski, M. (Mathias), Yang, Q. (Qiong Fang), O'Seaghdha, C.M. (Conall), Glazer, N.L. (Nicole), Isaacs, A.J. (Aaron), Liu, C.-T. (Ching-Ti), Smith, A.V. (Albert Vernon), O´Connell, J.R., Struchalin, M.V. (Maksim), Tanaka, T. (Toshiko), Johnson, A.D. (Andrew), Feitosa, M.F. (Mary Furlan), Hwang, S.J., Lohman, K. (Kurt), Cornelis, M. (Marilyn), Johansson, A. (Åsa), Tönjes, A. (Anke), Dehghan, A. (Abbas), Chouraki, V. (Vincent), Holliday, E.G. (Elizabeth), Sorice, R., Kutalik, Z. (Zoltán), Lehtimäki, T. (Terho), Esko, T. (Tõnu), Ulivi, S. (Shelia), Trompet, S. (Stella), Imboden, M. (Medea), Kollerits, B. (Barbara), Pistis, G. (Giorgio), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Aspelund, T. (Thor), Eiriksdottir, G. (Gudny), Mitchell, B.D. (Braxton), Boerwinkle, E.A. (Eric), Schmidt, R. (Reinhold), Cavalieri, M. (Margherita), Hu, F.B. (Frank), Demirkan, A. (Ayşe), Oostra, B.A. (Ben), Andrade, M. (Mariza) de, Andrews, J.S. (Jeanette), Koenig, W. (Wolfgang), Illig, T. (Thomas), Döring, A. (Angela), Wichmann, H.E. (Erich), Kolcic, I. (Ivana), Zemunik, T. (Tatijana), Boban, M. (Mladen), Igl, W. (Wilmar), Zaboli, G. (Ghazal), Wild, S.H. (Sarah), Wright, A.F. (Alan), Campbell, H. (Harry), Biffar, R. (Reiner), Ernst, F.D.J. (Florian), Homuth, G. (Georg), Kroemer, H.K. (Heyo), Nauck, M. (Matthias), Kovacs, P. (Peter), Stumvoll, M. (Michael), Mägi, R. (Reedik), Hofman, A. (Albert), Uitterlinden, A.G. (André), Rivadeneira Ramirez, F. (Fernando), Aulchenko, Y.S. (Yurii), Polasek, O. (Ozren), Hastie, N. (Nick), Vitart, V. (Veronique), Wang, J.J. (Jie Jin), Bergmann, S.M. (Sven), Kähönen, M. (Mika), Viikari, J. (Jorma), Province, M.A. (Mike), Ketkar, S. (Shamika), Doney, A.S.F. (Alex), Ford, I. (Ian), Buckley, B.M. (Brendan M.), Paulweber, B. (Bernhard), Haun, M. (Margot), Sala, C. (Cinzia), Ciullo, M., Vollenweider, P. (Peter), Raitakari, O. (Olli), Metspalu, A. (Andres), Palmer, C.N.A. (Colin), Gasparini, P. (Paolo), Jukema, J.W. (Jan Wouter), Kronenberg, F. (Florian), Toniolo, D. (Daniela), Gudnason, V. (Vilmundur), Shuldiner, A.R. (Alan), Coresh, J. (Josef), Ferrucci, L. (Luigi), Siscovick, D.S. (David), Tikka-Kleemola, P. (Päivi), Borecki, I.B. (Ingrid), Kardia, S.L.R. (Sharon), Curhan, G.C. (Gary), Rudan, I. (Igor), Gyllensten, U. (Ulf), Wilson, J.F. (James), Franke, A. (Andre), Pramstaller, P.P. (Peter Paul), Rettig, R. (Rainer), Prokopenko, I. (Inga), Witteman, J.C.M. (Jacqueline), Hayward, C. (Caroline), Ridker, P.M. (Paul), Parsa, A. (Afshin), Bochud, M. (Murielle), Heid, I.M. (Iris), Goessling, W. (Wolfram), Chasman, D.I. (Daniel), Kao, W.H.L. (Wen), and Fox, C.S. (Caroline)
Abstract: Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD.
Published: 2012
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21. Association of eGFR-related loci identified by GWAS with incident CKD and ESRD

Author: Böger, C.A. (Carsten), Gorski, M. (Mathias), Li, M. (Man), Hoffmann, M.M. (Michael), Huang, C. (Chunmei), Yang, Q. (Qiong Fang), Teumer, A. (Alexander), Krane, V. (Vera), O'Seaghdha, C.M. (Conall), Kutalik, Z. (Zoltán), Wichmann, H.E. (Heinz Erich), Haak, T. (Thomas), Boes, E. (Eva), Coassin, S. (Stefan), Coresh, J. (Josef), Kollerits, B. (Barbara), Haun, M. (Margot), Paulweber, B. (Bernhard), Köttgen, A. (Anna), Shlipak, M.G. (Michael), Powe, N. (Neil), Hwang, S.J., Dehghan, A. (Abbas), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Beckmann, J.S. (Jacques), Krämer, B.K. (Bernhard), Witteman, J.C.M. (Jacqueline), Bochud, M. (Murielle), Siscovick, D.S. (David), Rettig, R. (Rainer), Kronenberg, F. (Florian), Wanner, C. (Christoph), Thadhani, R.I. (Ravi), Heid, I.M. (Iris), Fox, C.S. (Caroline), Kao, W.H.L. (Wen), Böger, C.A. (Carsten), Gorski, M. (Mathias), Li, M. (Man), Hoffmann, M.M. (Michael), Huang, C. (Chunmei), Yang, Q. (Qiong Fang), Teumer, A. (Alexander), Krane, V. (Vera), O'Seaghdha, C.M. (Conall), Kutalik, Z. (Zoltán), Wichmann, H.E. (Heinz Erich), Haak, T. (Thomas), Boes, E. (Eva), Coassin, S. (Stefan), Coresh, J. (Josef), Kollerits, B. (Barbara), Haun, M. (Margot), Paulweber, B. (Bernhard), Köttgen, A. (Anna), Shlipak, M.G. (Michael), Powe, N. (Neil), Hwang, S.J., Dehghan, A. (Abbas), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Beckmann, J.S. (Jacques), Krämer, B.K. (Bernhard), Witteman, J.C.M. (Jacqueline), Bochud, M. (Murielle), Siscovick, D.S. (David), Rettig, R. (Rainer), Kronenberg, F. (Florian), Wanner, C. (Christoph), Thadhani, R.I. (Ravi), Heid, I.M. (Iris), Fox, C.S. (Caroline), and Kao, W.H.L. (Wen)
Abstract: Family studies suggest a genetic component to the etiology of chronic kidney disease (CKD) and end stage renal disease (ESRD). Previously, we identified 16 loci for eGFR in genome-wide association studies, but the associations of these single nucleotide polymorphisms (SNPs) for incident CKD or ESRD are unknown. We thus investigated the association of these loci with incident CKD in 26,308 individuals of European ancestry free of CKD at baseline drawn from eight population-based cohorts followed for a median of 7.2 years (including 2,122 incident CKD cases defined as eGFR <60ml/min/1.73m2at follow-up) and with ESRD in four case-control studies in subjects of European ancestry (3,775 cases, 4,577 controls). SNPs at 11 of the 16 loci (UMOD, PRKAG2, ANXA9, DAB2, SHROOM3, DACH1, STC1, SLC34A1, ALMS1/NAT8, UBE2Q2, and GCKR) were associated with incident CKD; p-values ranged from p = 4.1e-9 in UMOD to p = 0.03 in GCKR. After adjusting for baseline eGFR, six of these loci remained significantly associated with incident CKD (UMOD, PRKAG2, ANXA9, DAB2, DACH1, and STC1). SNPs in UMOD (OR = 0.92, p = 0.04) and GCKR (OR = 0.93, p = 0.03) were nominally associated with ESRD. In summary, the majority of eGFR-related loci are either associated or show a strong trend towards association with incident CKD, but have modest associations with ESRD in individuals of European descent. Additional work is required to characterize the association of genetic determinants of CKD and ESRD at different stages of disease progression.
Published: 2011
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22. Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: Results of genome-wide association analyses including 4659 European individuals

Author: Heid, I.M. (Iris), Henneman, P. (Peter), Hicks, A.A. (Andrew), Coassin, S. (Stefan), Winkler, T.W. (Thomas), Aulchenko, Y.S. (Yurii), Fuchsberger, C. (Christian), Song, K. (Kijoung), Hivert, M.-F. (Marie-France), Waterworth, D. (Dawn), Timpson, N.J. (Nicholas), Richards, J.B. (Brent), Perry, J.R.B. (John), Tanaka, T. (Toshiko), Amin, N. (Najaf), Kollerits, B. (Barbara), Pichler, I. (Irene), Oostra, B.A. (Ben), Thorand, B. (Barbara), Frants, R.R. (Rune), Illig, T. (Thomas), Dupuis, J. (Josée), Glaser, B. (Beate), Spector, T.D. (Timothy), Guralnik, J.M. (Jack), Egan, J.M. (Josephine), Florez, J.C. (Jose), Evans, D.M. (David), Soranzo, N. (Nicole), Bandinelli, S. (Stefania), Carlson, O.D. (Olga), Frayling, T.M. (Timothy), Burling, K.A. (Keith), Smith, A.V. (Davey), Mooser, V. (Vincent), Ferrucci, L. (Luigi), Meigs, J.B. (James), Vollenweider, P. (Peter), Dijk, K.W.v., Pramstaller, P.P. (Peter Paul), Kronenberg, F. (Florian), Tikka-Kleemola, P. (Päivi), Heid, I.M. (Iris), Henneman, P. (Peter), Hicks, A.A. (Andrew), Coassin, S. (Stefan), Winkler, T.W. (Thomas), Aulchenko, Y.S. (Yurii), Fuchsberger, C. (Christian), Song, K. (Kijoung), Hivert, M.-F. (Marie-France), Waterworth, D. (Dawn), Timpson, N.J. (Nicholas), Richards, J.B. (Brent), Perry, J.R.B. (John), Tanaka, T. (Toshiko), Amin, N. (Najaf), Kollerits, B. (Barbara), Pichler, I. (Irene), Oostra, B.A. (Ben), Thorand, B. (Barbara), Frants, R.R. (Rune), Illig, T. (Thomas), Dupuis, J. (Josée), Glaser, B. (Beate), Spector, T.D. (Timothy), Guralnik, J.M. (Jack), Egan, J.M. (Josephine), Florez, J.C. (Jose), Evans, D.M. (David), Soranzo, N. (Nicole), Bandinelli, S. (Stefania), Carlson, O.D. (Olga), Frayling, T.M. (Timothy), Burling, K.A. (Keith), Smith, A.V. (Davey), Mooser, V. (Vincent), Ferrucci, L. (Luigi), Meigs, J.B. (James), Vollenweider, P. (Peter), Dijk, K.W.v., Pramstaller, P.P. (Peter Paul), Kronenberg, F. (Florian), and Tikka-Kleemola, P. (Päivi)
Abstract: Objective: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We therefore aimed to investigate the genetics of plasma adiponectin in men and women. Methods: We combined genome-wide association scans of three population-based studies including 4659 persons. For the replication stage in 13795 subjects, we selected the 20 top signals of the combined analysis, as well as the 10 top signals with p-values less than 1.0 × 10-4for each the men- and the women-specific analyses. We further selected 73 SNPs that were consistently associated with metabolic syndrome parameters in previous genome-wide association studies to check for their association wit
Published: 2010
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23. Hundreds of variants clustered in genomic loci and biological pathways affect human height

Author: Allen, H.L., Estrada Gil, K. (Karol), Lettre, G. (Guillaume), Berndt, S.I. (Sonja), Rivadeneira Ramirez, F. (Fernando), Willer, C.J. (Cristen), Jackson, A.U. (Anne), Vedantam, S. (Sailaja), Raychaudhuri, S. (Soumya), Ferreira, T. (Teresa), Wood, A.R. (Andrew), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Speliotes, E.K. (Elizabeth), Wheeler, E. (Eleanor), Soranzo, N. (Nicole), Park, J.H., Yang, J. (Joanna), Gudbjartsson, D.F. (Daniel), Heard-Costa, N.L. (Nancy), Randall, J.C. (Joshua), Qi, L. (Lu), Smith, A.V. (Albert Vernon), Mägi, R. (Reedik), Pastinen, T. (Tomi), Liang, L. (Liming), Heid, I.M. (Iris), Luan, J., Thorleifsson, G. (Gudmar), Winkler, T.W. (Thomas), Goddard, M.E. (Michael), Lo, K.S., Palmer, C. (Cameron), Workalemahu, T. (Tsegaselassie), Aulchenko, Y.S. (Yurii), Johansson, A. (Åsa), Zillikens, M.C. (Carola), Feitosa, M.F. (Mary Furlan), Esko, T. (Tõnu), Johnson, T. (Toby), Ketkar, S. (Shamika), Kraft, P. (Peter), Mangino, M. (Massimo), Prokopenko, I. (Inga), Absher, D. (Devin), Albrecht, E. (Eva), Ernst, F.D.J. (Florian), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Hottenga, J.J. (Jouke Jan), Jacobs, K.B. (Kevin), Knowles, J.W. (Joshua), Kutalik, Z. (Zoltán), Monda, K.L. (Keri), Polasek, O. (Ozren), Preuss, M. (Michael), Rayner, N.W. (Nigel William), Robertson, N.R. (Neil), Steinthorsdottir, V. (Valgerdur), Tyrer, J.P. (Jonathan), Voight, B.F. (Benjamin), Wiklund, F. (Fredrik), Xu, J. (Jianfeng), Zhao, J.H. (Jing Hua), Nyholt, D.R. (Dale), Pellikka, N. (Niina), Perola, M. (Markus), Perry, J.R.B. (John), Surakka, I. (Ida), Tammesoo, M.L., Altmaier, E.L. (Elizabeth), Amin, N. (Najaf), Aspelund, T. (Thor), Bhangale, T. (Tushar), Boucher, G. (Gabrielle), Chasman, D.I. (Daniel), Chen, C. (Constance), Coin, L. (Lachlan), Cooper, M.N. (Matthew), Dixon, A.L. (Anna), Gibson, Q. (Quince), Grundberg, E. (Elin), Hao, K. (Ke), Junttila, M.J. (Juhani), Kaplan, R.C. (Robert), Kettunen, J. (Johannes), König, I.R. (Inke), Kwan, T. (Tony), Lawrence, R.W. (Robert), Levinson, D.F. (Douglas), Lorentzon, M. (Mattias), McKnight, B. (Barbara), Morris, A.D. (Andrew), Müller, M. (Martina), Ngwa, J.S., Purcell, S. (Shaun), Rafelt, S. (Suzanne), Salem, R.M. (Rany), Salvi, E. (Erika), Sanna, S. (Serena), Shi, J. (Jianxin), Sovio, U. (Ulla), Thompson, J.R. (John), Turchin, M.C. (Michael), Vandenput, L. (Liesbeth), Verlaan, D.J. (Dominique), Vitart, V. (Veronique), White, C.C. (Charles), Ziegler, A. (Andreas), Almgren, P. (Peter), Balmforth, A.J. (Anthony), Campbell, H. (Harry), Citterio, L. (Lorena), Grandi, A. (Alessandro) de, Dominiczak, A. (Anna), Duan, J. (Jubao), Elliott, P. (Paul), Elosua, R. (Roberto), Eriksson, J.G. (Johan), Freimer, N.B. (Nelson), Geus, E.J.C. (Eco) de, Glorioso, N. (Nicola), Haiqing, S. (Shen), Hartikainen, A.L., Havulinna, A.S. (Aki), Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Illig, T. (Thomas), Jula, A. (Antti), Kajantie, E. (Eero), Kilpeläinen, T.O. (Tuomas), Koiranen, M. (Markku), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Laitinen, J. (Jaana), Liu, J. (Jianjun), Lokki, M.L., Marusic, A. (Ana), Maschio, A., Meitinger, T. (Thomas), Mulas, A. (Antonella), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Petersmann, A. (Astrid), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Rotter, J.I. (Jerome), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Schmidt, C.O. (Carsten Oliver), Sinisalo, J. (Juha), Smit, J.H. (Jan), Stringham, H.M. (Heather), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Zagato, L. (Laura), Zgaga, L. (Lina), Zitting, P. (Paavo), Alavere, H. (Helene), Farrall, M. (Martin), McArdle, W.L. (Wendy), Nelis, M. (Mari), Peters, M.J. (Marjolein), Ripatti, S. (Samuli), Meurs, J.B.J. (Joyce) van, Aben, K.K.H. (Katja), Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Collins, F.S. (Francis), Cusi, D. (Daniele), Heijer, M. (Martin) den, Eiriksdottir, G. (Gudny), Gejman, P.V. (Pablo), Hall, A.S. (Alistair), Hamsten, A. (Anders), Huikuri, H.V. (Heikki), Iribarren, C. (Carlos), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kocher, T. (Thomas), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Melander, O. (Olle), Mosley, T.H. (Thomas), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), O'Donnell, C.J. (Christopher), Ohlsson, C. (Claes), Oostra, B.A. (Ben), Raitakari, O. (Olli), Ridker, P.M. (Paul), Rioux, J.D. (John), Rissanen, A. (Aila), Rivolta, C. (Carlo), Schunkert, H. (Heribert), Shuldiner, A.R. (Alan), Siscovick, D.S. (David), Stumvoll, M. (Michael), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Ommen, G.J. (Gert) van, Viikari, J. (Jorma), Heath, A.C. (Andrew), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Province, M.A. (Mike), Kayser, M.H. (Manfred), Arnold, A.M. (Alice), Atwood, L.D. (Larry), Boerwinkle, E.A. (Eric), Chanock, S.J. (Stephen), Deloukas, P. (Panagiotis), Gieger, C. (Christian), Grönberg, H. (Henrik), Hattersley, A.T. (Andrew), Hengstenberg, C. (Christian), Hoffman, W. (Wolfgang), Lathrop, G.M. (Mark), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Uda, M. (Manuela), Waterworth, D. (Dawn), Wright, A.F. (Alan), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Hofman, A. (Albert), Mohlke, K.L. (Karen), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Cupples, L.A. (Adrienne), Fox, C.S. (Caroline), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Harris, T.B. (Tamara), Hayes, R.B. (Richard), Järvelin, M.R., Mooser, V. (Vincent), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Rudan, I. (Igor), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Völzke, H. (Henry), Watkins, H. (Hugh), Wilson, J.F. (James), Groop, L. (Leif), Haritunians, T. (Talin), Hu, F.B. (Frank), Metspalu, A. (Andres), North, K.E. (Kari), Schlessinger, D., Wareham, N.J. (Nick), Hunter, D.J. (David), O´Connell, J.R., Strachan, D.P. (David), Wichmann, H.E. (Heinz Erich), Borecki, I.B. (Ingrid), Duijn, C.M. (Cornelia) van, Schadt, E.E. (Eric), Thorsteinsdottir, U. (Unnur), Peltonen, L. (Leena Johanna), Uitterlinden, A.G. (André), Visscher, P.M. (Peter), Chatterjee, N. (Nilanjan), Erdmann, J. (Jeanette), Loos, R.J.F. (Ruth), Boehnke, M. (Michael), McCarthy, M.I. (Mark), Ingelsson, E. (Erik), Lindgren, C.M. (Cecilia), Abecasis, G.R. (Gonçalo), Stefansson, K. (Kari), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Ardlie, K.G. (Kristin), Weedon, M.N. (Michael), Allen, H.L., Estrada Gil, K. (Karol), Lettre, G. (Guillaume), Berndt, S.I. (Sonja), Rivadeneira Ramirez, F. (Fernando), Willer, C.J. (Cristen), Jackson, A.U. (Anne), Vedantam, S. (Sailaja), Raychaudhuri, S. (Soumya), Ferreira, T. (Teresa), Wood, A.R. (Andrew), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Speliotes, E.K. (Elizabeth), Wheeler, E. (Eleanor), Soranzo, N. (Nicole), Park, J.H., Yang, J. (Joanna), Gudbjartsson, D.F. (Daniel), Heard-Costa, N.L. (Nancy), Randall, J.C. (Joshua), Qi, L. (Lu), Smith, A.V. (Albert Vernon), Mägi, R. (Reedik), Pastinen, T. (Tomi), Liang, L. (Liming), Heid, I.M. (Iris), Luan, J., Thorleifsson, G. (Gudmar), Winkler, T.W. (Thomas), Goddard, M.E. (Michael), Lo, K.S., Palmer, C. (Cameron), Workalemahu, T. (Tsegaselassie), Aulchenko, Y.S. (Yurii), Johansson, A. (Åsa), Zillikens, M.C. (Carola), Feitosa, M.F. (Mary Furlan), Esko, T. (Tõnu), Johnson, T. (Toby), Ketkar, S. (Shamika), Kraft, P. (Peter), Mangino, M. (Massimo), Prokopenko, I. (Inga), Absher, D. (Devin), Albrecht, E. (Eva), Ernst, F.D.J. (Florian), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Hottenga, J.J. (Jouke Jan), Jacobs, K.B. (Kevin), Knowles, J.W. (Joshua), Kutalik, Z. (Zoltán), Monda, K.L. (Keri), Polasek, O. (Ozren), Preuss, M. (Michael), Rayner, N.W. (Nigel William), Robertson, N.R. (Neil), Steinthorsdottir, V. (Valgerdur), Tyrer, J.P. (Jonathan), Voight, B.F. (Benjamin), Wiklund, F. (Fredrik), Xu, J. (Jianfeng), Zhao, J.H. (Jing Hua), Nyholt, D.R. (Dale), Pellikka, N. (Niina), Perola, M. (Markus), Perry, J.R.B. (John), Surakka, I. (Ida), Tammesoo, M.L., Altmaier, E.L. (Elizabeth), Amin, N. (Najaf), Aspelund, T. (Thor), Bhangale, T. (Tushar), Boucher, G. (Gabrielle), Chasman, D.I. (Daniel), Chen, C. (Constance), Coin, L. (Lachlan), Cooper, M.N. (Matthew), Dixon, A.L. (Anna), Gibson, Q. (Quince), Grundberg, E. (Elin), Hao, K. (Ke), Junttila, M.J. (Juhani), Kaplan, R.C. (Robert), Kettunen, J. (Johannes), König, I.R. (Inke), Kwan, T. (Tony), Lawrence, R.W. (Robert), Levinson, D.F. (Douglas), Lorentzon, M. (Mattias), McKnight, B. (Barbara), Morris, A.D. (Andrew), Müller, M. (Martina), Ngwa, J.S., Purcell, S. (Shaun), Rafelt, S. (Suzanne), Salem, R.M. (Rany), Salvi, E. (Erika), Sanna, S. (Serena), Shi, J. (Jianxin), Sovio, U. (Ulla), Thompson, J.R. (John), Turchin, M.C. (Michael), Vandenput, L. (Liesbeth), Verlaan, D.J. (Dominique), Vitart, V. (Veronique), White, C.C. (Charles), Ziegler, A. (Andreas), Almgren, P. (Peter), Balmforth, A.J. (Anthony), Campbell, H. (Harry), Citterio, L. (Lorena), Grandi, A. (Alessandro) de, Dominiczak, A. (Anna), Duan, J. (Jubao), Elliott, P. (Paul), Elosua, R. (Roberto), Eriksson, J.G. (Johan), Freimer, N.B. (Nelson), Geus, E.J.C. (Eco) de, Glorioso, N. (Nicola), Haiqing, S. (Shen), Hartikainen, A.L., Havulinna, A.S. (Aki), Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Illig, T. (Thomas), Jula, A. (Antti), Kajantie, E. (Eero), Kilpeläinen, T.O. (Tuomas), Koiranen, M. (Markku), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Laitinen, J. (Jaana), Liu, J. (Jianjun), Lokki, M.L., Marusic, A. (Ana), Maschio, A., Meitinger, T. (Thomas), Mulas, A. (Antonella), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Petersmann, A. (Astrid), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Rotter, J.I. (Jerome), Sambrook, J.G. (Jennifer), Sanders, A.R. (Alan), Schmidt, C.O. (Carsten Oliver), Sinisalo, J. (Juha), Smit, J.H. (Jan), Stringham, H.M. (Heather), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Zagato, L. (Laura), Zgaga, L. (Lina), Zitting, P. (Paavo), Alavere, H. (Helene), Farrall, M. (Martin), McArdle, W.L. (Wendy), Nelis, M. (Mari), Peters, M.J. (Marjolein), Ripatti, S. (Samuli), Meurs, J.B.J. (Joyce) van, Aben, K.K.H. (Katja), Beckmann, J.S. (Jacques), Beilby, J.P. (John), Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Collins, F.S. (Francis), Cusi, D. (Daniele), Heijer, M. (Martin) den, Eiriksdottir, G. (Gudny), Gejman, P.V. (Pablo), Hall, A.S. (Alistair), Hamsten, A. (Anders), Huikuri, H.V. (Heikki), Iribarren, C. (Carlos), Kähönen, M. (Mika), Kaprio, J. (Jaakko), Kathiresan, S. (Sekar), Kiemeney, L.A.L.M. (Bart), Kocher, T. (Thomas), Launer, L.J. (Lenore), Lehtimäki, T. (Terho), Melander, O. (Olle), Mosley, T.H. (Thomas), Musk, A.W. (Arthur), Nieminen, M.S. (Markku), O'Donnell, C.J. (Christopher), Ohlsson, C. (Claes), Oostra, B.A. (Ben), Raitakari, O. (Olli), Ridker, P.M. (Paul), Rioux, J.D. (John), Rissanen, A. (Aila), Rivolta, C. (Carlo), Schunkert, H. (Heribert), Shuldiner, A.R. (Alan), Siscovick, D.S. (David), Stumvoll, M. (Michael), Tönjes, A. (Anke), Tuomilehto, J. (Jaakko), Ommen, G.J. (Gert) van, Viikari, J. (Jorma), Heath, A.C. (Andrew), Martin, N.G. (Nicholas), Montgomery, G.W. (Grant), Province, M.A. (Mike), Kayser, M.H. (Manfred), Arnold, A.M. (Alice), Atwood, L.D. (Larry), Boerwinkle, E.A. (Eric), Chanock, S.J. (Stephen), Deloukas, P. (Panagiotis), Gieger, C. (Christian), Grönberg, H. (Henrik), Hattersley, A.T. (Andrew), Hengstenberg, C. (Christian), Hoffman, W. (Wolfgang), Lathrop, G.M. (Mark), Salomaa, V. (Veikko), Schreiber, S. (Stefan), Uda, M. (Manuela), Waterworth, D. (Dawn), Wright, A.F. (Alan), Assimes, T.L. (Themistocles), Barroso, I.E. (Inês), Hofman, A. (Albert), Mohlke, K.L. (Karen), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Cupples, L.A. (Adrienne), Fox, C.S. (Caroline), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Harris, T.B. (Tamara), Hayes, R.B. (Richard), Järvelin, M.R., Mooser, V. (Vincent), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Rudan, I. (Igor), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Völzke, H. (Henry), Watkins, H. (Hugh), Wilson, J.F. (James), Groop, L. (Leif), Haritunians, T. (Talin), Hu, F.B. (Frank), Metspalu, A. (Andres), North, K.E. (Kari), Schlessinger, D., Wareham, N.J. (Nick), Hunter, D.J. (David), O´Connell, J.R., Strachan, D.P. (David), Wichmann, H.E. (Heinz Erich), Borecki, I.B. (Ingrid), Duijn, C.M. (Cornelia) van, Schadt, E.E. (Eric), Thorsteinsdottir, U. (Unnur), Peltonen, L. (Leena Johanna), Uitterlinden, A.G. (André), Visscher, P.M. (Peter), Chatterjee, N. (Nilanjan), Erdmann, J. (Jeanette), Loos, R.J.F. (Ruth), Boehnke, M. (Michael), McCarthy, M.I. (Mark), Ingelsson, E. (Erik), Lindgren, C.M. (Cecilia), Abecasis, G.R. (Gonçalo), Stefansson, K. (Kari), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Ardlie, K.G. (Kristin), and Weedon, M.N. (Michael)
Abstract: Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits1, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait2,3. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways ( P=0.016) and that underlie skeletal growth defects ( P<0.001). Second, the likely causal gene is often located near the most str
Published: 2010
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24. Biological, clinical and population relevance of 95 loci for blood lipids

Author: Teslovich, T.M. (Tanya), Musunuru, K. (Kiran), Smith, A.V. (Albert Vernon), Edmondson, A.C. (Andrew), Stylianou, I.M. (Ioannis), Koseki, M. (Masahiro), Pirruccello, J.P. (James), Ripatti, S. (Samuli), Chasman, D.I. (Daniel), Willer, C.J. (Cristen), Johansen, C.T. (Christopher), Fouchier, S.W. (Sigrid), Isaacs, A.J. (Aaron), Peloso, G.M. (Gina), Barbalic, M. (maja), Ricketts, S.L. (Sally), Bis, J.C. (Joshua), Aulchenko, Y.S. (Yurii), Thorleifsson, G. (Gudmar), Feitosa, M.F. (Mary Furlan), Chambers, J. (John), Orho-Melander, M. (Marju), Melander, O. (Olle), Johnson, T. (Toby), Li, X. (Xiaohui), Guo, X. (Xiuqing), Shin Cho, Y. (Yoon), Jin Go, M. (Min), Jin Kim, Y. (Young), Lee, J.Y. (Jong Young), Park, T. (Taesung), Kim, Y-J. (Yong-Jin), Sim, X. (Xueling), Twee-Hee Ong, R. (Rick), Croteau-Chonka, D.C. (Damien), Lange, L.A. (Leslie), Song, K. (Kijoung), Zhao, J.H. (Jing Hua), Yuan, X. (Xin), Luan, J., Lamina, C. (Claudia), Ziegler, A. (Andreas), Zhang, W. (Weibo), Zee, R.Y.L. (Robert), Wright, A.F. (Alan), Witteman, J.C.M. (Jacqueline), Wilson, J.F. (James), Willemsen, G.A.H.M. (Gonneke), Wichmann, H.E. (Heinz Erich), Whitfield, J. (John), Waterworth, D. (Dawn), Wareham, N.J. (Nick), Waeber, G. (Gérard), Vollenweider, P. (Peter), Voight, B.F. (Benjamin), Vitart, V. (Veronique), Uitterlinden, A.G. (André), Uda, M. (Manuela), Tuomilehto, J. (Jaakko), Thompson, J.R. (John), Tanaka, T. (Toshiko), Surakka, I. (Ida), Stringham, H.M. (Heather), Spector, T.D. (Timothy), Soranzo, N. (Nicole), Smit, J.H. (Johannes), Sinisalo, J. (Juha), Silander, K. (Kaisa), Sijbrands, E.J.G. (Eric), Scuteri, A. (Angelo), Scott, J. (James), Schlessinger, D. (David), Sanna, S. (Serena), Salomaa, V. (Veikko), Saharinen, J. (Juha), Sabatti, C. (Chiara), Ruokonen, A. (Aimo), Rudan, I. (Igor), Rose, L.M. (Lynda), Roberts, R. (Robert), Rieder, M. (Mark), Psaty, B.M. (Bruce), Pramstaller, P.P. (Peter Paul), Pichler, I. (Irene), Perola, M. (Markus), Penninx, B.W.J.H. (Brenda), Pedersen, N.L. (Nancy), Pattaro, C. (Cristian), Parker, A.N. (Alex), Pare, G. (Guillaume), Oostra, B.A. (Ben), Nieminen, M.S. (Markku), Nickerson, D.A. (Deborah), Montgomery, G.W. (Grant), Meitinger, T. (Thomas), McPherson, R. (Ruth), McCarthy, M.I. (Mark), McArdle, W.L. (Wendy), Masson, D. (David), Martin, N.G. (Nicholas), Marroni, F. (Fabio), Mangino, M. (Massimo), Magnusson, P.K. (Patrik), Lucas, G. (Gavin), Luben, R.N. (Robert), Loos, R.J.F. (Ruth), Lokki, M.L., Lettre, G. (Guillaume), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lakatta, E. (Edward), Laaksonen, R. (Reijo), Kyvik, K.O. (Kirsten Ohm), Kronenberg, F. (Florian), König, I.R. (Inke), Khaw, K-T. (Kay-Tee), Kaprio, J. (Jaakko), Kaplan, R.C. (Robert), Johansson, A. (Åsa), Jarvelin, M.-R. (Marjo-Riitta), Cecile, A. (A.), Ingelsson, E. (Erik), Igl, W. (Wilmar), Hovingh, G.K. (Kees), Hottenga, J.J. (Jouke Jan), Hofman, A. (Albert), Hicks, A.A. (Andrew), Hengstenberg, C. (Christian), Heid, I.M. (Iris), Hayward, C. (Caroline), Havulinna, A.S. (Aki), Hastie, N. (Nick), Harris, T.B. (Tamara), Haritunians, T. (Talin), Hall, A.S. (Alistair), Gyllensten, U. (Ulf), Guiducci, C. (Candace), Groop, L. (Leif), Gonzalez, E. (Elena), Gieger, C. (Christian), Freimer, N.B. (Nelson), Ferrucci, L. (Luigi), Erdmann, J. (Jeanette), Elliott, P. (Paul), Ejebe, K.G. (Kenechi), Döring, A. (Angela), Dominiczak, A. (Anna), Demissie, S. (Serkalem), Deloukas, P. (Panagiotis), Geus, E.J.C. (Eco) de, Faire, U. (Ulf) de, Crawford, G. (Gabe), Collins, F.S. (Francis), Chen, C. (Chao), Caulfield, M. (Mark), Campbell, H. (Harry), Burtt, N.P. (Noël), Bonnycastle, L.L. (Lori), Boomsma, D.I. (Dorret), Boekholdt, S.M. (Matthijs), Bergman, R.N. (Richard), Barroso, I.E. (Inês), Bandinelli, S. (Stefania), Ballantyne, C. (Christie), Assimes, T.L. (Themistocles), Quertermous, T. (Thomas), Altshuler, D. (David), Seielstad, M. (Mark), Wong, T.Y. (Tien Yin), Tai, E.S. (Shyong), Feranil, A.B. (Alan), Kuzawa, C.W. (Christopher), Adair, L.S. (Linda), Taylor, H.A. (Herman), Borecki, I.B. (Ingrid), Gabriel, S.B. (Stacey), Holm, H. (Hilma), Thorsteinsdottir, U. (Unnur), Gudnason, V. (Vilmundur), Krauss, R.M. (Ronald), Mohlke, K.L. (Karen), Ordovas, J.M. (Jose), Munroe, P. (Patricia), Kooner, J.S. (Jaspal), Tall, A.R. (Alan), Hegele, R.A. (Robert), Kastelein, J.J.P. (John), Schadt, E.E. (Eric), Rotter, J.I. (Jerome), Boerwinkle, E.A. (Eric), Strachan, D.P. (David), Mooser, V. (Vincent), Zwart, J-A. (John-Anker), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Cupples, L.A. (Adrienne), Sandhu, M.S. (Manjinder), Ridker, P.M. (Paul), Rader, D.J. (Daniel), Tikka-Kleemola, P. (Päivi), Peltonen, L. (Leena Johanna), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Kathiresan, S. (Sekar), O'Donnell, C.J. (Christopher), Teslovich, T.M. (Tanya), Musunuru, K. (Kiran), Smith, A.V. (Albert Vernon), Edmondson, A.C. (Andrew), Stylianou, I.M. (Ioannis), Koseki, M. (Masahiro), Pirruccello, J.P. (James), Ripatti, S. (Samuli), Chasman, D.I. (Daniel), Willer, C.J. (Cristen), Johansen, C.T. (Christopher), Fouchier, S.W. (Sigrid), Isaacs, A.J. (Aaron), Peloso, G.M. (Gina), Barbalic, M. (maja), Ricketts, S.L. (Sally), Bis, J.C. (Joshua), Aulchenko, Y.S. (Yurii), Thorleifsson, G. (Gudmar), Feitosa, M.F. (Mary Furlan), Chambers, J. (John), Orho-Melander, M. (Marju), Melander, O. (Olle), Johnson, T. (Toby), Li, X. (Xiaohui), Guo, X. (Xiuqing), Shin Cho, Y. (Yoon), Jin Go, M. (Min), Jin Kim, Y. (Young), Lee, J.Y. (Jong Young), Park, T. (Taesung), Kim, Y-J. (Yong-Jin), Sim, X. (Xueling), Twee-Hee Ong, R. (Rick), Croteau-Chonka, D.C. (Damien), Lange, L.A. (Leslie), Song, K. (Kijoung), Zhao, J.H. (Jing Hua), Yuan, X. (Xin), Luan, J., Lamina, C. (Claudia), Ziegler, A. (Andreas), Zhang, W. (Weibo), Zee, R.Y.L. (Robert), Wright, A.F. (Alan), Witteman, J.C.M. (Jacqueline), Wilson, J.F. (James), Willemsen, G.A.H.M. (Gonneke), Wichmann, H.E. (Heinz Erich), Whitfield, J. (John), Waterworth, D. (Dawn), Wareham, N.J. (Nick), Waeber, G. (Gérard), Vollenweider, P. (Peter), Voight, B.F. (Benjamin), Vitart, V. (Veronique), Uitterlinden, A.G. (André), Uda, M. (Manuela), Tuomilehto, J. (Jaakko), Thompson, J.R. (John), Tanaka, T. (Toshiko), Surakka, I. (Ida), Stringham, H.M. (Heather), Spector, T.D. (Timothy), Soranzo, N. (Nicole), Smit, J.H. (Johannes), Sinisalo, J. (Juha), Silander, K. (Kaisa), Sijbrands, E.J.G. (Eric), Scuteri, A. (Angelo), Scott, J. (James), Schlessinger, D. (David), Sanna, S. (Serena), Salomaa, V. (Veikko), Saharinen, J. (Juha), Sabatti, C. (Chiara), Ruokonen, A. (Aimo), Rudan, I. (Igor), Rose, L.M. (Lynda), Roberts, R. (Robert), Rieder, M. (Mark), Psaty, B.M. (Bruce), Pramstaller, P.P. (Peter Paul), Pichler, I. (Irene), Perola, M. (Markus), Penninx, B.W.J.H. (Brenda), Pedersen, N.L. (Nancy), Pattaro, C. (Cristian), Parker, A.N. (Alex), Pare, G. (Guillaume), Oostra, B.A. (Ben), Nieminen, M.S. (Markku), Nickerson, D.A. (Deborah), Montgomery, G.W. (Grant), Meitinger, T. (Thomas), McPherson, R. (Ruth), McCarthy, M.I. (Mark), McArdle, W.L. (Wendy), Masson, D. (David), Martin, N.G. (Nicholas), Marroni, F. (Fabio), Mangino, M. (Massimo), Magnusson, P.K. (Patrik), Lucas, G. (Gavin), Luben, R.N. (Robert), Loos, R.J.F. (Ruth), Lokki, M.L., Lettre, G. (Guillaume), Langenberg, C. (Claudia), Launer, L.J. (Lenore), Lakatta, E. (Edward), Laaksonen, R. (Reijo), Kyvik, K.O. (Kirsten Ohm), Kronenberg, F. (Florian), König, I.R. (Inke), Khaw, K-T. (Kay-Tee), Kaprio, J. (Jaakko), Kaplan, R.C. (Robert), Johansson, A. (Åsa), Jarvelin, M.-R. (Marjo-Riitta), Cecile, A. (A.), Ingelsson, E. (Erik), Igl, W. (Wilmar), Hovingh, G.K. (Kees), Hottenga, J.J. (Jouke Jan), Hofman, A. (Albert), Hicks, A.A. (Andrew), Hengstenberg, C. (Christian), Heid, I.M. (Iris), Hayward, C. (Caroline), Havulinna, A.S. (Aki), Hastie, N. (Nick), Harris, T.B. (Tamara), Haritunians, T. (Talin), Hall, A.S. (Alistair), Gyllensten, U. (Ulf), Guiducci, C. (Candace), Groop, L. (Leif), Gonzalez, E. (Elena), Gieger, C. (Christian), Freimer, N.B. (Nelson), Ferrucci, L. (Luigi), Erdmann, J. (Jeanette), Elliott, P. (Paul), Ejebe, K.G. (Kenechi), Döring, A. (Angela), Dominiczak, A. (Anna), Demissie, S. (Serkalem), Deloukas, P. (Panagiotis), Geus, E.J.C. (Eco) de, Faire, U. (Ulf) de, Crawford, G. (Gabe), Collins, F.S. (Francis), Chen, C. (Chao), Caulfield, M. (Mark), Campbell, H. (Harry), Burtt, N.P. (Noël), Bonnycastle, L.L. (Lori), Boomsma, D.I. (Dorret), Boekholdt, S.M. (Matthijs), Bergman, R.N. (Richard), Barroso, I.E. (Inês), Bandinelli, S. (Stefania), Ballantyne, C. (Christie), Assimes, T.L. (Themistocles), Quertermous, T. (Thomas), Altshuler, D. (David), Seielstad, M. (Mark), Wong, T.Y. (Tien Yin), Tai, E.S. (Shyong), Feranil, A.B. (Alan), Kuzawa, C.W. (Christopher), Adair, L.S. (Linda), Taylor, H.A. (Herman), Borecki, I.B. (Ingrid), Gabriel, S.B. (Stacey), Holm, H. (Hilma), Thorsteinsdottir, U. (Unnur), Gudnason, V. (Vilmundur), Krauss, R.M. (Ronald), Mohlke, K.L. (Karen), Ordovas, J.M. (Jose), Munroe, P. (Patricia), Kooner, J.S. (Jaspal), Tall, A.R. (Alan), Hegele, R.A. (Robert), Kastelein, J.J.P. (John), Schadt, E.E. (Eric), Rotter, J.I. (Jerome), Boerwinkle, E.A. (Eric), Strachan, D.P. (David), Mooser, V. (Vincent), Zwart, J-A. (John-Anker), Reilly, M.P. (Muredach), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Cupples, L.A. (Adrienne), Sandhu, M.S. (Manjinder), Ridker, P.M. (Paul), Rader, D.J. (Daniel), Tikka-Kleemola, P. (Päivi), Peltonen, L. (Leena Johanna), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Kathiresan, S. (Sekar), and O'Donnell, C.J. (Christopher)
Abstract: Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of European ancestry. Here we report 95 significantly associated loci (P<-10-8), with 59 showing genome-wide significant association with lipid traits for the first time. The newly reported associations include single nucleotide polymorphisms (SNPs) near known lipid regulators (for example, CYP7A1, NPC1L1 and SCARB1) as well as in scores of loci not previously implicated in lipoprotein metabolism. The 95 loci contribute not only to normal variation in lipid traits but also to extreme lipid phenotypes and have an impact on lipid traits in three non-European populations (East Asians, South Asians and African Americans). Our results identify several novel loci associated with plasma lipids that are also associated with CAD. Finally, we validated three of the novel genes-GALNT2, PPP1R3B and TTC39B-with experiments in mouse models. Taken together, our findings provide the foundation to develop a broader biological understanding of lipoprotein metabolism and to identify new therapeutic opportunities for the prevention of CAD.
Published: 2010
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25. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Author: Speliotes, E.K. (Elizabeth), Willer, C.J. (Cristen), Berndt, S.I. (Sonja), Monda, K.L. (Keri), Thorleifsson, G. (Gudmar), Jackson, A.U. (Anne), Allen, H.L., Lindgren, C.M. (Cecilia), Luan, J., Mägi, R. (Reedik), Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Winkler, T.W. (Thomas), Qi, L. (Lu), Workalemahu, T. (Tsegaselassie), Heid, I.M. (Iris), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Ferreira, T. (Teresa), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Eestrada, K. (Karol), Liang, L. (Liming), Nemesh, J. (James), Park, J.H., Gustafsson, S. (Stefan), Kilpeläinen, T.O. (Tuomas), Yang, J. (Joanna), Bouatia-Naji, N. (Nabila), Eesko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Kutalik, Z. (Zoltán), Mangino, M. (Massimo), Raychaudhuri, S. (Soumya), Scherag, A. (Andre), Smith, A.V. (Albert Vernon), Welch, R.P. (Ryan), Zhao, J.H. (Jing Hua), Aben, K.K.H. (Katja), Absher, D. (Devin), Amin, N. (Najaf), Dixon, A.L. (Anna), Fisher, E. (Eeva), Glazer, N.L. (Nicole), Goddard, M.E. (Michael), Heard-Costa, N.L. (Nancy), Hoesel, V. (Volker), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Ketkar, S. (Shamika), Lamina, C. (Claudia), Li, S. (Shengxu), Moffatt, M.F. (Miriam), Myers, R.H. (Richard), Narisu, N. (Narisu), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Preuss, M. (Michael), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Sandholt, C. (Camilla), Scott, L.J. (Laura), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Wingerden, S. (Sophie) van, White, C.C. (Charles), Wiklund, F. (Fredrik), Barlassina, C. (Christina), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Lawrence, R.W. (Robert), Pellikka, N. (Niina), Prokopenko, I. (Inga), Shi, J. (Jianxin), Thiering, E. (Eelisabeth), Alavere, H. (Helene), Alibrandi, M.T.S. (Maria), Almgren, P. (Peter), Arnold, A.M. (Alice), Aspelund, T. (Thor), Atwood, L.D. (Larry), Balkau, B. (Beverley), Balmforth, A.J. (Anthony), Bennett, A.J. (Amanda), Ben-Shlomo, Y., Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Biebermann, H. (Heike), Blakemore, A.I.F. (Alexandra), Boes, T. (Tanja), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Brown, M.J. (Morris), Buchanan, T.A. (Thomas), Busonero, F., Campbell, H. (Harry), Cappuccio, F.P. (Francesco), Cavalcanti-Proença, C. (Christine), Chen, Y.D.I. (Yii-Der Ida), Chen, C.-M. (Chih-Mei), Chines, P.S. (Peter), Clarke, R., Coin, L. (Lachlan), Connell, J. (John), Day, I.N.M. (Ian), Heijer, M. (Martin) den, Duan, J. (Jubao), Eebrahim, S. (Shah), Eelliott, P. (Paul), Eelosua, R. (Roberto), Eeiriksdottir, G. (Gudny), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Facheris, M.F. (Maurizio), Felix, S.B. (Stephan), Fischer-Posovszky, P. (Pamela), Folsom, A.R. (Aaron), Friedrich, N. (Nele), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Gejman, P.V. (Pablo), Geus, E.J.C. (Eco) de, Gieger, C. (Christian), Gjesing, A.P. (Anette), Goel, A. (Anuj), Goyette, P. (Philippe), Grallert, H. (Harald), Gräßler, J. (Jürgen), Greenawalt, D. (Danielle), Groves, C.J. (Christopher), Gudnason, V. (Vilmundur), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Hall, A.S. (Alistair), Havulinna, A.S. (Aki), Hayward, C. (Caroline), Heath, A.C. (Andrew), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hinney, A. (Anke), Hofman, A. (Albert), Homuth, G. (Georg), Hui, J. (Jennie), Igl, W. (Wilmar), Iribarren, C. (Carlos), Isomaa, B. (Bo), Jacobs, K.B. (Kevin), Jarick, I. (Ivonne), Jewell, E. (Eelizabeth), John, U. (Ulrich), Jørgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaakinen, M. (Marika), Kajantie, E. (Eero), Kaplan, R.C. (Robert), Kathiresan, S. (Sekar), Kettunen, J. (Johannes), Kinnunen, L. (Leena), Knowles, J.W. (Joshua), Kolcic, I. (Ivana), König, I.R. (Inke), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kusisto, J. (Johanna), Kraft, P. (Peter), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lanzani, C. (Chiara), Launer, L.J. (Lenore), Lecoeur, C. (Cécile), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Liu, J. (Jianjun), Lokki, M.L., Lorentzon, M. (Mattias), Luben, R.N. (Robert), Ludwig, B. (Barbara), Manunta, P. (Paolo), Marek, D. (Diana), Marre, M. (Michel), Martin, N.G. (Nicholas), McArdle, W.L. (Wendy), McCarthy, M.I. (Mark), McKnight, B. (Barbara), Meitinger, T. (Thomas), Melander, O. (Olle), Meyre, D. (David), Midthjell, K. (Kristian), Montgomery, G.W. (Grant), Morken, M.A. (Mario), Morris, A.D. (Andrew), Mulic, R. (Rosanda), Ngwa, J.S., Nelis, M. (Mari), Neville, M.J. (Matthew), Nyholt, D.R. (Dale), O'Ddonnell, C.J. (Christopher), O'Rahilly, S. (Stephen), Ong, K. (Ken), Oostra, B.A. (Ben), Paré, G. (Guillaume), Parker, A.N. (Alex), Perola, M. (Markus), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Polasek, O. (Ozren), Pouta, A. (Anneli), Rafelt, S. (Suzanne), Raitakari, O. (Olli), Rayner, N.W. (Nigel William), Ridderstråle, M. (Martin), Rief, W. (Winfried), Ruokonen, A. (Aimo), Robertson, N.R. (Neil), Rzehak, P. (Peter), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sandhu, M.S. (Manjinder), Sanna, S. (Serena), Saramies, J. (Jouko), Savolainen, M.J. (Markku), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Silander, K. (Kaisa), Sinisalo, J. (Juha), Siscovick, D.S. (David), Smit, J.H. (Jan), Soranzo, N. (Nicole), Sovio, U. (Ulla), Stephens, J. (Jonathan), Surakka, I. (Ida), Swift, A.J. (Amy), Tammesoo, M.L., Tardif, J.-C. (Jean-Claude), Teder-Laving, M. (Maris), Teslovich, T.M. (Tanya), Thompson, J.R. (John), Thomson, B. (Brian), Tönjes, A. (Anke), Tuomi, T. (Tiinamaija), Meurs, J.B.J. (Joyce) van, OMen, G.J. van, Vatin, V. (Vincent), Viikari, J. (Jorma), Visvikis-Siest, S. (Sophie), Vitart, V. (Veronique), Vogel, C.I. (Carla), Voight, B.F. (Benjamin), Waite, L. (Lindsay), Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wiegand, S. (Susanna), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Witteman, J.C.M. (Jacqueline), Xu, J. (Jianfeng), Zhang, Q. (Qunyuan), Zgaga, L. (Lina), Ziegler, A. (Andreas), Zitting, P. (Paavo), Beilby, J.P. (John), FarOqi, I.S. (Ssadaf), Hebebrand, J. (Johannes), Huikuri, H.V. (Heikki), James, A. (Alan), Kähönen, M. (Mika), Levinson, D.F. (Douglas), MacCiardi, F. (Fabio), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Beckmann, J.S. (Jacques), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Collins, F.S. (Francis), Cupples, L.A. (Adrienne), Eerdmann, J. (Jeanette), Frogue, P. (Philippe), Grönberg, H. (Henrik), Gyllensten, U. (Ulf), Hansen, T. (Torben), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayes, R.B. (Richard), Heinrich, J. (Joachim), Hu, F.B. (Frank), Hveem, K. (Kristian), Illig, T. (Thomas), Järvelin, M.R., Kaprio, J. (Jaakko), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Krude, H., Laakso, M. (Markku), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Reinehr, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Samani, N.J. (Nilesh), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Spector, T.D. (Timothy), Tuomilehto, J. (Jaakko), Uda, M. (Manuela), Uitterlinden, A.G. (André), Valle, T.T. (Timo), Wabitsch, M. (Martin), Waeber, G. (Gérard), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Wright, A.F. (Alan), Zillikens, M.C. (Carola), ChatterjE, N. (Nilanjan), McCarroll, S.A. (Steve), Purcell, S. (Shaun), Schadt, E.E. (Eric), Visscher, P.M. (Peter), Assimes, T.L. (Themistocles), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), Mohlke, K.L. (Karen), O'ConneL, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), SchleSinger, D. (David), Strachan, D.P. (David), Watanabe, R.M. (Richard), Duijn, C.M. (Cornelia) van, Wichmann, H.E. (Heinz Erich), Frayling, T.M. (Timothy), Thorsteinsdottir, U. (Unnur), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), StefanSon, K. (Kari), North, K.E. (Kari), McArthy, M.I. (Mark), Hirschhorn, J.N. (Joel), IngelSon, E. (Erik), Loos, R.J.F. (Ruth), Weedon, M.N. (Michael), Speliotes, E.K. (Elizabeth), Willer, C.J. (Cristen), Berndt, S.I. (Sonja), Monda, K.L. (Keri), Thorleifsson, G. (Gudmar), Jackson, A.U. (Anne), Allen, H.L., Lindgren, C.M. (Cecilia), Luan, J., Mägi, R. (Reedik), Randall, J.C. (Joshua), Vedantam, S. (Sailaja), Winkler, T.W. (Thomas), Qi, L. (Lu), Workalemahu, T. (Tsegaselassie), Heid, I.M. (Iris), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Ferreira, T. (Teresa), Weyant, R.J. (Robert), Segrè, A.V. (Ayellet), Eestrada, K. (Karol), Liang, L. (Liming), Nemesh, J. (James), Park, J.H., Gustafsson, S. (Stefan), Kilpeläinen, T.O. (Tuomas), Yang, J. (Joanna), Bouatia-Naji, N. (Nabila), Eesko, T. (Tõnu), Feitosa, M.F. (Mary Furlan), Kutalik, Z. (Zoltán), Mangino, M. (Massimo), Raychaudhuri, S. (Soumya), Scherag, A. (Andre), Smith, A.V. (Albert Vernon), Welch, R.P. (Ryan), Zhao, J.H. (Jing Hua), Aben, K.K.H. (Katja), Absher, D. (Devin), Amin, N. (Najaf), Dixon, A.L. (Anna), Fisher, E. (Eeva), Glazer, N.L. (Nicole), Goddard, M.E. (Michael), Heard-Costa, N.L. (Nancy), Hoesel, V. (Volker), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Ketkar, S. (Shamika), Lamina, C. (Claudia), Li, S. (Shengxu), Moffatt, M.F. (Miriam), Myers, R.H. (Richard), Narisu, N. (Narisu), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Preuss, M. (Michael), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Sandholt, C. (Camilla), Scott, L.J. (Laura), Timpson, N.J. (Nicholas), Tyrer, J.P. (Jonathan), Wingerden, S. (Sophie) van, White, C.C. (Charles), Wiklund, F. (Fredrik), Barlassina, C. (Christina), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Lawrence, R.W. (Robert), Pellikka, N. (Niina), Prokopenko, I. (Inga), Shi, J. (Jianxin), Thiering, E. (Eelisabeth), Alavere, H. (Helene), Alibrandi, M.T.S. (Maria), Almgren, P. (Peter), Arnold, A.M. (Alice), Aspelund, T. (Thor), Atwood, L.D. (Larry), Balkau, B. (Beverley), Balmforth, A.J. (Anthony), Bennett, A.J. (Amanda), Ben-Shlomo, Y., Bergman, R.N. (Richard), Bergmann, S.M. (Sven), Biebermann, H. (Heike), Blakemore, A.I.F. (Alexandra), Boes, T. (Tanja), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Brown, M.J. (Morris), Buchanan, T.A. (Thomas), Busonero, F., Campbell, H. (Harry), Cappuccio, F.P. (Francesco), Cavalcanti-Proença, C. (Christine), Chen, Y.D.I. (Yii-Der Ida), Chen, C.-M. (Chih-Mei), Chines, P.S. (Peter), Clarke, R., Coin, L. (Lachlan), Connell, J. (John), Day, I.N.M. (Ian), Heijer, M. (Martin) den, Duan, J. (Jubao), Eebrahim, S. (Shah), Eelliott, P. (Paul), Eelosua, R. (Roberto), Eeiriksdottir, G. (Gudny), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Facheris, M.F. (Maurizio), Felix, S.B. (Stephan), Fischer-Posovszky, P. (Pamela), Folsom, A.R. (Aaron), Friedrich, N. (Nele), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Gejman, P.V. (Pablo), Geus, E.J.C. (Eco) de, Gieger, C. (Christian), Gjesing, A.P. (Anette), Goel, A. (Anuj), Goyette, P. (Philippe), Grallert, H. (Harald), Gräßler, J. (Jürgen), Greenawalt, D. (Danielle), Groves, C.J. (Christopher), Gudnason, V. (Vilmundur), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Hall, A.S. (Alistair), Havulinna, A.S. (Aki), Hayward, C. (Caroline), Heath, A.C. (Andrew), Hengstenberg, C. (Christian), Hicks, A.A. (Andrew), Hinney, A. (Anke), Hofman, A. (Albert), Homuth, G. (Georg), Hui, J. (Jennie), Igl, W. (Wilmar), Iribarren, C. (Carlos), Isomaa, B. (Bo), Jacobs, K.B. (Kevin), Jarick, I. (Ivonne), Jewell, E. (Eelizabeth), John, U. (Ulrich), Jørgensen, T. (Torben), Jousilahti, P. (Pekka), Jula, A. (Antti), Kaakinen, M. (Marika), Kajantie, E. (Eero), Kaplan, R.C. (Robert), Kathiresan, S. (Sekar), Kettunen, J. (Johannes), Kinnunen, L. (Leena), Knowles, J.W. (Joshua), Kolcic, I. (Ivana), König, I.R. (Inke), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kusisto, J. (Johanna), Kraft, P. (Peter), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lanzani, C. (Chiara), Launer, L.J. (Lenore), Lecoeur, C. (Cécile), Lehtimäki, T. (Terho), Lettre, G. (Guillaume), Liu, J. (Jianjun), Lokki, M.L., Lorentzon, M. (Mattias), Luben, R.N. (Robert), Ludwig, B. (Barbara), Manunta, P. (Paolo), Marek, D. (Diana), Marre, M. (Michel), Martin, N.G. (Nicholas), McArdle, W.L. (Wendy), McCarthy, M.I. (Mark), McKnight, B. (Barbara), Meitinger, T. (Thomas), Melander, O. (Olle), Meyre, D. (David), Midthjell, K. (Kristian), Montgomery, G.W. (Grant), Morken, M.A. (Mario), Morris, A.D. (Andrew), Mulic, R. (Rosanda), Ngwa, J.S., Nelis, M. (Mari), Neville, M.J. (Matthew), Nyholt, D.R. (Dale), O'Ddonnell, C.J. (Christopher), O'Rahilly, S. (Stephen), Ong, K. (Ken), Oostra, B.A. (Ben), Paré, G. (Guillaume), Parker, A.N. (Alex), Perola, M. (Markus), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Polasek, O. (Ozren), Pouta, A. (Anneli), Rafelt, S. (Suzanne), Raitakari, O. (Olli), Rayner, N.W. (Nigel William), Ridderstråle, M. (Martin), Rief, W. (Winfried), Ruokonen, A. (Aimo), Robertson, N.R. (Neil), Rzehak, P. (Peter), Salomaa, V. (Veikko), Sanders, A.R. (Alan), Sandhu, M.S. (Manjinder), Sanna, S. (Serena), Saramies, J. (Jouko), Savolainen, M.J. (Markku), Schipf, S. (Sabine), Schreiber, S. (Stefan), Schunkert, H. (Heribert), Silander, K. (Kaisa), Sinisalo, J. (Juha), Siscovick, D.S. (David), Smit, J.H. (Jan), Soranzo, N. (Nicole), Sovio, U. (Ulla), Stephens, J. (Jonathan), Surakka, I. (Ida), Swift, A.J. (Amy), Tammesoo, M.L., Tardif, J.-C. (Jean-Claude), Teder-Laving, M. (Maris), Teslovich, T.M. (Tanya), Thompson, J.R. (John), Thomson, B. (Brian), Tönjes, A. (Anke), Tuomi, T. (Tiinamaija), Meurs, J.B.J. (Joyce) van, OMen, G.J. van, Vatin, V. (Vincent), Viikari, J. (Jorma), Visvikis-Siest, S. (Sophie), Vitart, V. (Veronique), Vogel, C.I. (Carla), Voight, B.F. (Benjamin), Waite, L. (Lindsay), Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wiegand, S. (Susanna), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Witteman, J.C.M. (Jacqueline), Xu, J. (Jianfeng), Zhang, Q. (Qunyuan), Zgaga, L. (Lina), Ziegler, A. (Andreas), Zitting, P. (Paavo), Beilby, J.P. (John), FarOqi, I.S. (Ssadaf), Hebebrand, J. (Johannes), Huikuri, H.V. (Heikki), James, A. (Alan), Kähönen, M. (Mika), Levinson, D.F. (Douglas), MacCiardi, F. (Fabio), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Beckmann, J.S. (Jacques), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Collins, F.S. (Francis), Cupples, L.A. (Adrienne), Eerdmann, J. (Jeanette), Frogue, P. (Philippe), Grönberg, H. (Henrik), Gyllensten, U. (Ulf), Hansen, T. (Torben), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayes, R.B. (Richard), Heinrich, J. (Joachim), Hu, F.B. (Frank), Hveem, K. (Kristian), Illig, T. (Thomas), Järvelin, M.R., Kaprio, J. (Jaakko), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Kiemeney, L.A.L.M. (Bart), Krude, H., Laakso, M. (Markku), Lawlor, D.A. (Debbie), Metspalu, A. (Andres), Munroe, P. (Patricia), Ouwehand, W.H. (Willem), Pedersen, O. (Oluf), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Quertermous, T. (Thomas), Reinehr, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Samani, N.J. (Nilesh), Schwarz, P.E.H. (Peter), Shuldiner, A.R. (Alan), Spector, T.D. (Timothy), Tuomilehto, J. (Jaakko), Uda, M. (Manuela), Uitterlinden, A.G. (André), Valle, T.T. (Timo), Wabitsch, M. (Martin), Waeber, G. (Gérard), Wareham, N.J. (Nick), Watkins, H. (Hugh), Wilson, J.F. (James), Wright, A.F. (Alan), Zillikens, M.C. (Carola), ChatterjE, N. (Nilanjan), McCarroll, S.A. (Steve), Purcell, S. (Shaun), Schadt, E.E. (Eric), Visscher, P.M. (Peter), Assimes, T.L. (Themistocles), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Fox, C.S. (Caroline), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), Mohlke, K.L. (Karen), O'ConneL, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), SchleSinger, D. (David), Strachan, D.P. (David), Watanabe, R.M. (Richard), Duijn, C.M. (Cornelia) van, Wichmann, H.E. (Heinz Erich), Frayling, T.M. (Timothy), Thorsteinsdottir, U. (Unnur), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), StefanSon, K. (Kari), North, K.E. (Kari), McArthy, M.I. (Mark), Hirschhorn, J.N. (Joel), IngelSon, E. (Erik), Loos, R.J.F. (Ruth), and Weedon, M.N. (Michael)
Abstract: Obesity is globaLy prevalent and highly heritable, but its underlying genetic factors remain largely elusive. To identify genetic loci for obesity susceptibility, we examined aSociations betwEn body maS index and ĝ̂1/42.8 miLion SNPs in up to 123,865 individuals with targeted foLow up of 42 SNPs in up to 125,931 aDitional individuals. We confirmed 14 known obesity susceptibility loci and identified 18 new loci aSociated with body maS index (P < 5-10-8), one of which includes a copy number variant near GPRC5B. Some loci (at MC4R, POMC, SH2B1 and BDNF) map near key hypothalamic regulators of energy balance, and one of these loci is near GIPR, an incretin receptor. Furthermore, genes in other newly aSociated loci may provide new insights into human body weight regulation.
Published: 2010
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26. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Author: Heid, I.M. (Iris), Jackson, A.U. (Anne), Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Qi, L. (Lu), Ssteinthorsdottir, V. (Valgerdur), Tthorleifsson, G. (Ggudmar), Zillikens, M.C. (Carola), Sspeliotes, E.K. (Eelizabeth), Mägi, R. (Reedik), Workalemahu, T. (Tsegaselassie), White, C.C. (Charles), Bouatia-Naji, N. (Nabila), Harris, T.B. (Tamara), Berndt, S.I. (Sonja), Ingelsson, E. (Erik), Willer, C.J. (Cristen), Luan, J., Vedantam, S. (Sailaja), Eesko, T. (Tõnu), Kilpeläinen, T.O. (Tuomas), Kutalik, Z. (Zoltán), Li, S. (Shengxu), Monda, K.L. (Keri), Dixon, A.L. (Anna), Holmes, C. (Christopher), Kaplan, R.C. (Robert), Liang, L. (Liming), Min, J. (Josine), Moffatt, M.F. (Miriam), Molony, C. (Cliona), Nicholson, G. (Ggeorge), Sschadt, E.E. (Eeric), Zondervan, K.T. (Krina), Feitosa, M.F. (Mary Furlan), Ferreira, T. (Teresa), Allen, H.L., Weyant, R.J. (Robert), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Eestrada, K. (Karol), Goddard, M.E. (Michael), Lettre, G. (Guillaume), Mangino, M. (Massimo), Nyholt, D.R. (Dale), Purcell, S. (Shaun), Ssmith, A.V., Visscher, P.M. (Peter), Yang, J. (Joanna), McCcarroll, S.A. (Ssteven), Nemesh, J. (James), Voight, B.F. (Benjamin), Absher, D. (Devin), Amin, N. (Najaf), Aspelund, T. (Thor), Coin, L. (Lachlan), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Heard-Ccosta, N. (Nancy), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Kaakinen, M. (Marika), Kapur, K. (Karen), Ketkar, S. (Shamika), Knowles, J.W. (Joshua), Kraft, P. (Peter), Kraja, A. (Aldi), Lamina, C. (Claudia), Leitzmann, M.F. (Michael), McKknight, B. (Barbara), Morris, A.D. (Andrew), Oong, K. (Ken), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Polasek, O. (Ozren), Prokopenko, I. (Inga), Rayner, N.W. (Nigel William), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robertson, N.R. (Neil), Sanna, S. (Serena), Sovio, U. (Ulla), Surakka, I. (Ida), Teumer, A. (Alexander), Wingerden, S. (Sophie) van, Vitart, V. (Veronique), Zhao, J.H. (Jing Hua), Cavalcanti-Proença, C. (Christine), Chines, P.S. (Peter), Fisher, E. (Eeva), Kulzer, J.R. (Jennifer), Lecoeur, C. (Cécile), Narisu, N. (Narisu), Sandholt, C. (Camilla), Scott, L.J. (Laura), Silander, K. (Kaisa), Stark, K. (Klaus), Tammesoo, M.L., Teslovich, T.M. (Tanya), Timpson, N.J. (Nicholas), Welch, R.P. (Ryan), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Kettunen, J. (Johannes), Wlawrence, R. (Robert), Pellikka, N. (Niina), Perola, M. (Markus), Vandenput, L. (Liesbeth), Alavere, H. (Helene), Almgren, P. (Peter), Atwood, L.D. (Larry), Bennett, A.J. (Amanda), Biffar, R. (Reiner), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Buchanan, T.A. (Thomas), Campbell, H. (Harry), Day, I.N.M. (Ian), Dei, M. (Mariano), Dörr, M. (Marcus), Eelliott, P. (Paul), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Geus, E.J.C. (Eco) de, Gjesing, A.P. (Anette), Grallert, H. (Harald), Gräßler, J. (Jürgen), Groves, C.J. (Christopher), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Havulinna, A.S. (Aki), Herzig, K.H., Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Jousilahti, P. (Pekka), Jula, A. (Antti), Kajantie, E. (Eero), Kinnunen, L. (Leena), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kroemer, H.K. (Heyo), Krzelj, V. (Vjekoslav), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lathrop, G.M. (Mark), Lokki, M.L., Luben, R.N. (Robert), Ludwig, B. (Barbara), McArdle, W.L. (Wendy), McCcarthy, A. (Anne), Morken, M.A. (Mario), Nelis, M. (Mari), Neville, M.J. (Matthew), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sinisalo, J. (Juha), Smit, J.H. (Jan), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather), Swift, A.J. (Amy), Teder-Llaving, M. (Maris), Thomson, B. (Brian), Usala, G., Meurs, J.B.J. (Joyce) van, Ommen, G.J. (Gert) van, Vatin, V. (Vincent), Volpato, C.B., Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Zgaga, L. (Lina), Zitting, P. (Paavo), Beilby, J.P. (John), James, A. (Alan), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Raitakari, O. (Olli), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Tönjes, A. (Anke), Viikari, J. (Jorma), Balkau, B. (Beverley), Ben-Shlomo, Y., Bergman, R.N. (Richard), Boeing, H. (Heiner), Smith, A.V. (Albert Vernon), Eebrahim, S. (Shah), Froguel, P. (Philippe), Hansen, T. (Torben), Hengstenberg, C. (Christian), Hveem, K. (Kristian), Isomaa, B. (Bo), Jørgensen, T. (Torben), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Laakso, M. (Markku), Lawlor, D.A. (Debbie), Marre, M. (Michel), Meitinger, T. (Thomas), Metspalu, A. (Andres), Midthjell, K. (Kristian), Pedersen, O. (Oluf), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Tuomi, T. (Tiinamaija), Tuomilehto, J. (Jaakko), Valle, T.T. (Timo), Wareham, N.J. (Nick), Arnold, A.M. (Alice), Beckmann, J.S. (Jacques), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Collins, F.S. (Francis), Eeiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Hattersley, A.T. (Andrew), Hofman, A. (Albert), Hu, F.B. (Frank), Illig, T. (Thomas), Iribarren, C. (Carlos), Järvelin, M.R., Kao, W.H.L. (Wen), Kaprio, J. (Jaakko), Launer, L.J. (Lenore), Munroe, P. (Patricia), Oostra, B.A. (Ben), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Quertermous, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Shuldiner, A.R. (Alan), Soranzo, N. (Nicole), Spector, T.D. (Timothy), Syvanen, A.C., Uda, M. (Manuela), Uitterlinden, A.G. (André), Völzke, H. (Henry), Vollenweider, P. (Peter), Wilson, J.F. (James), Witteman, J.C.M. (Jacqueline), Wright, A.F. (Alan), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), North, K.E. (Kari), O'Cconnell, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), Schlessinger, D., Strachan, D.P. (David), Hirschhorn, J.N. (Joel), Assimes, T.L. (Themistocles), Wichmann, H.E. (Heinz Erich), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Stefansson, K. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Fox, C.S. (Caroline), Mohlke, K.L. (Karen), Lindgren, C.M. (Cecilia), Watanabe, R.M. (Richard), Weedon, M.N. (Michael), Heid, I.M. (Iris), Jackson, A.U. (Anne), Randall, J.C. (Joshua), Winkler, T.W. (Thomas), Qi, L. (Lu), Ssteinthorsdottir, V. (Valgerdur), Tthorleifsson, G. (Ggudmar), Zillikens, M.C. (Carola), Sspeliotes, E.K. (Eelizabeth), Mägi, R. (Reedik), Workalemahu, T. (Tsegaselassie), White, C.C. (Charles), Bouatia-Naji, N. (Nabila), Harris, T.B. (Tamara), Berndt, S.I. (Sonja), Ingelsson, E. (Erik), Willer, C.J. (Cristen), Luan, J., Vedantam, S. (Sailaja), Eesko, T. (Tõnu), Kilpeläinen, T.O. (Tuomas), Kutalik, Z. (Zoltán), Li, S. (Shengxu), Monda, K.L. (Keri), Dixon, A.L. (Anna), Holmes, C. (Christopher), Kaplan, R.C. (Robert), Liang, L. (Liming), Min, J. (Josine), Moffatt, M.F. (Miriam), Molony, C. (Cliona), Nicholson, G. (Ggeorge), Sschadt, E.E. (Eeric), Zondervan, K.T. (Krina), Feitosa, M.F. (Mary Furlan), Ferreira, T. (Teresa), Allen, H.L., Weyant, R.J. (Robert), Wheeler, E. (Eleanor), Wood, A.R. (Andrew), Eestrada, K. (Karol), Goddard, M.E. (Michael), Lettre, G. (Guillaume), Mangino, M. (Massimo), Nyholt, D.R. (Dale), Purcell, S. (Shaun), Ssmith, A.V., Visscher, P.M. (Peter), Yang, J. (Joanna), McCcarroll, S.A. (Ssteven), Nemesh, J. (James), Voight, B.F. (Benjamin), Absher, D. (Devin), Amin, N. (Najaf), Aspelund, T. (Thor), Coin, L. (Lachlan), Glazer, N.L. (Nicole), Hayward, C. (Caroline), Heard-Ccosta, N. (Nancy), Hottenga, J.J. (Jouke Jan), Johansson, A. (Åsa), Johnson, T. (Toby), Kaakinen, M. (Marika), Kapur, K. (Karen), Ketkar, S. (Shamika), Knowles, J.W. (Joshua), Kraft, P. (Peter), Kraja, A. (Aldi), Lamina, C. (Claudia), Leitzmann, M.F. (Michael), McKknight, B. (Barbara), Morris, A.D. (Andrew), Oong, K. (Ken), Perry, J.R.B. (John), Peters, M.J. (Marjolein), Polasek, O. (Ozren), Prokopenko, I. (Inga), Rayner, N.W. (Nigel William), Ripatti, S. (Samuli), Rivadeneira Ramirez, F. (Fernando), Robertson, N.R. (Neil), Sanna, S. (Serena), Sovio, U. (Ulla), Surakka, I. (Ida), Teumer, A. (Alexander), Wingerden, S. (Sophie) van, Vitart, V. (Veronique), Zhao, J.H. (Jing Hua), Cavalcanti-Proença, C. (Christine), Chines, P.S. (Peter), Fisher, E. (Eeva), Kulzer, J.R. (Jennifer), Lecoeur, C. (Cécile), Narisu, N. (Narisu), Sandholt, C. (Camilla), Scott, L.J. (Laura), Silander, K. (Kaisa), Stark, K. (Klaus), Tammesoo, M.L., Teslovich, T.M. (Tanya), Timpson, N.J. (Nicholas), Welch, R.P. (Ryan), Chasman, D.I. (Daniel), Cooper, M.N. (Matthew), Jansson, J.O., Kettunen, J. (Johannes), Wlawrence, R. (Robert), Pellikka, N. (Niina), Perola, M. (Markus), Vandenput, L. (Liesbeth), Alavere, H. (Helene), Almgren, P. (Peter), Atwood, L.D. (Larry), Bennett, A.J. (Amanda), Biffar, R. (Reiner), Bonnycastle, L.L. (Lori), Bornstein, S.R. (Stefan), Buchanan, T.A. (Thomas), Campbell, H. (Harry), Day, I.N.M. (Ian), Dei, M. (Mariano), Dörr, M. (Marcus), Eelliott, P. (Paul), Eerdos, M.R. (Micheal), Eeriksson, J.G. (Johan), Freimer, N.B. (Nelson), Fu, M. (Mao), Gaget, S. (Stefan), Geus, E.J.C. (Eco) de, Gjesing, A.P. (Anette), Grallert, H. (Harald), Gräßler, J. (Jürgen), Groves, C.J. (Christopher), Guiducci, C. (Candace), Hartikainen, A.L., Hassanali, N. (Neelam), Havulinna, A.S. (Aki), Herzig, K.H., Hicks, A.A. (Andrew), Hui, J. (Jennie), Igl, W. (Wilmar), Jousilahti, P. (Pekka), Jula, A. (Antti), Kajantie, E. (Eero), Kinnunen, L. (Leena), Kolcic, I. (Ivana), Koskinen, S. (Seppo), Kovacs, P. (Peter), Kroemer, H.K. (Heyo), Krzelj, V. (Vjekoslav), Kuusisto, J. (Johanna), Kvaløy, K. (Kirsti), Laitinen, J. (Jaana), Lantieri, O. (Olivier), Lathrop, G.M. (Mark), Lokki, M.L., Luben, R.N. (Robert), Ludwig, B. (Barbara), McArdle, W.L. (Wendy), McCcarthy, A. (Anne), Morken, M.A. (Mario), Nelis, M. (Mari), Neville, M.J. (Matthew), Paré, G. (Guillaume), Parker, A.N. (Alex), Peden, J. (John), Pichler, I. (Irene), Pietilainen, K.H. (Kirsi Hannele), Platou, C.P. (Carl), Pouta, A. (Anneli), Ridderstråle, M. (Martin), Samani, N.J. (Nilesh), Saramies, J. (Jouko), Sinisalo, J. (Juha), Smit, J.H. (Jan), Strawbridge, R.J. (Rona), Stringham, H.M. (Heather), Swift, A.J. (Amy), Teder-Llaving, M. (Maris), Thomson, B. (Brian), Usala, G., Meurs, J.B.J. (Joyce) van, Ommen, G.J. (Gert) van, Vatin, V. (Vincent), Volpato, C.B., Wallaschofski, H. (Henri), Walters, G.B. (Bragi), Widen, E. (Elisabeth), Wild, S.H. (Sarah), Willemsen, G.A.H.M. (Gonneke), Witte, D.R. (Deniel), Zgaga, L. (Lina), Zitting, P. (Paavo), Beilby, J.P. (John), James, A. (Alan), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Nieminen, M.S. (Markku), Ohlsson, C. (Claes), Palmer, C. (Cameron), Raitakari, O. (Olli), Ridker, P.M. (Paul), Stumvoll, M. (Michael), Tönjes, A. (Anke), Viikari, J. (Jorma), Balkau, B. (Beverley), Ben-Shlomo, Y., Bergman, R.N. (Richard), Boeing, H. (Heiner), Smith, A.V. (Albert Vernon), Eebrahim, S. (Shah), Froguel, P. (Philippe), Hansen, T. (Torben), Hengstenberg, C. (Christian), Hveem, K. (Kristian), Isomaa, B. (Bo), Jørgensen, T. (Torben), Karpe, F. (Fredrik), Khaw, K-T. (Kay-Tee), Laakso, M. (Markku), Lawlor, D.A. (Debbie), Marre, M. (Michel), Meitinger, T. (Thomas), Metspalu, A. (Andres), Midthjell, K. (Kristian), Pedersen, O. (Oluf), Salomaa, V. (Veikko), Schwarz, P.E.H. (Peter), Tuomi, T. (Tiinamaija), Tuomilehto, J. (Jaakko), Valle, T.T. (Timo), Wareham, N.J. (Nick), Arnold, A.M. (Alice), Beckmann, J.S. (Jacques), Bergmann, S.M. (Sven), Boerwinkle, E.A. (Eric), Boomsma, D.I. (Dorret), Caulfield, M. (Mark), Collins, F.S. (Francis), Eeiriksdottir, G. (Gudny), Gudnason, V. (Vilmundur), Gyllensten, U. (Ulf), Hamsten, A. (Anders), Hattersley, A.T. (Andrew), Hofman, A. (Albert), Hu, F.B. (Frank), Illig, T. (Thomas), Iribarren, C. (Carlos), Järvelin, M.R., Kao, W.H.L. (Wen), Kaprio, J. (Jaakko), Launer, L.J. (Lenore), Munroe, P. (Patricia), Oostra, B.A. (Ben), Penninx, B.W.J.H. (Brenda), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Quertermous, T. (Thomas), Rissanen, A. (Aila), Rudan, I. (Igor), Shuldiner, A.R. (Alan), Soranzo, N. (Nicole), Spector, T.D. (Timothy), Syvanen, A.C., Uda, M. (Manuela), Uitterlinden, A.G. (André), Völzke, H. (Henry), Vollenweider, P. (Peter), Wilson, J.F. (James), Witteman, J.C.M. (Jacqueline), Wright, A.F. (Alan), Abecasis, G.R. (Gonçalo), Boehnke, M. (Michael), Borecki, I.B. (Ingrid), Deloukas, P. (Panagiotis), Frayling, T.M. (Timothy), Groop, L. (Leif), Haritunians, T. (Talin), Hunter, D.J. (David), North, K.E. (Kari), O'Cconnell, J.R. (Jeffrey), Peltonen, L. (Leena Johanna), Schlessinger, D., Strachan, D.P. (David), Hirschhorn, J.N. (Joel), Assimes, T.L. (Themistocles), Wichmann, H.E. (Heinz Erich), Thorsteinsdottir, U. (Unnur), Duijn, C.M. (Cornelia) van, Stefansson, K. (Kari), Cupples, L.A. (Adrienne), Loos, R.J.F. (Ruth), Barroso, I.E. (Inês), Fox, C.S. (Caroline), Mohlke, K.L. (Karen), Lindgren, C.M. (Cecilia), Watanabe, R.M. (Richard), and Weedon, M.N. (Michael)
Abstract: Waist-hip ratio (WHR) is a measure of body fat distribution and a predictor of metabolic consequences independent of overall adiposity. WHR is heritable, but few genetic variants influencing this trait have been identified. We conducted a meta-analysis of 32 genome-wide association studies for WHR adjusted for body mass index (comprising up to 77,167 participants), following up 16 loci in an additional 29 studies (comprising up to 113,636 subjects). We identified 13 new loci in or near RSPO3, VEGFA, TBX15-WARS2, NFE2L3, GRB14, DNM3-PIGC, ITPR2-SPN, LY86, HOXC13, ADAMTS9, ZNRF3-KREMEN1, NISCH-STAB1 and CPEB4 (P = 1.9-10-9 to P = 1.8-10-40) and the known signal at LYPLAL1. Seven of these loci exhibited marked sexual dimorphism, all with a stronger effect on WHR in women than men (P for sex difference = 1.9-10-3 to P = 1.2-10-13). These findings provide evidence for multiple loci that modulate body fat distribution independent of overall adiposity and reveal strong gene-by-sex interactions.
Published: 2010
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27. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

Author: Aulchenko, Y.S. (Yurii), Ripatti, S. (Samuli), Lindqvist, I. (Ida), Boomsma, D.I. (Dorret), Heid, I.M. (Iris), Pramstaller, P.P. (Peter Paul), Penninx, B.W.J.H. (Brenda), Janssens, A.C.J.W. (Cécile), Wilson, J.F. (James), Spector, T.D. (Timothy), Martin, N.G. (Nicholas), Pedersen, N.L. (Nancy), Kyvik, K.O. (Kirsten Ohm), Kaprio, J. (Jaakko), Hofman, A. (Albert), Freimer, N.B. (Nelson), Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Campbell, H. (Harry), Rudan, I. (Igor), Johansson, A. (Åsa), Marroni, F. (Fabio), Hayward, C. (Caroline), Vitart, V. (Veronique), Jonasson, I. (Inger), Pattaro, C. (Cristian), Wright, A. (Alan), Hastie, N. (Nick), Pichler, I. (Irene), Hicks, A.A. (Andrew), Falchi, M. (Mario), Willemsen, G.A.H.M. (Gonneke), Hottenga, J.J. (Jouke Jan), Geus, E.J.C. (Eco) de, Montgomery, G.W. (Grant), Whitfield, J. (John), Magnusson, P. (Patrik), Saharinen, J. (Juha), Perola, M. (Markus), Silander, K. (Kaisa), Isaacs, A.J. (Aaron), Sijbrands, E.J.G. (Eric), Uitterlinden, A.G. (André), Witteman, J.C.M. (Jacqueline), Oostra, B.A. (Ben), Elliott, P. (Paul), Ruokonen, A. (Aimo), Sabatti, C. (Chiara), Gieger, C. (Christian), Meitinger, T. (Thomas), Kronenberg, F. (Florian), Döring, A. (Angela), Wichmann, H.E. (Erich), Smit, J.H. (Johannes), McCarthy, M.I. (Mark), Tikka-Kleemola, P. (Päivi), Peltonen, L. (Leena Johanna), Aulchenko, Y.S. (Yurii), Ripatti, S. (Samuli), Lindqvist, I. (Ida), Boomsma, D.I. (Dorret), Heid, I.M. (Iris), Pramstaller, P.P. (Peter Paul), Penninx, B.W.J.H. (Brenda), Janssens, A.C.J.W. (Cécile), Wilson, J.F. (James), Spector, T.D. (Timothy), Martin, N.G. (Nicholas), Pedersen, N.L. (Nancy), Kyvik, K.O. (Kirsten Ohm), Kaprio, J. (Jaakko), Hofman, A. (Albert), Freimer, N.B. (Nelson), Jarvelin, M.-R. (Marjo-Riitta), Gyllensten, U. (Ulf), Campbell, H. (Harry), Rudan, I. (Igor), Johansson, A. (Åsa), Marroni, F. (Fabio), Hayward, C. (Caroline), Vitart, V. (Veronique), Jonasson, I. (Inger), Pattaro, C. (Cristian), Wright, A. (Alan), Hastie, N. (Nick), Pichler, I. (Irene), Hicks, A.A. (Andrew), Falchi, M. (Mario), Willemsen, G.A.H.M. (Gonneke), Hottenga, J.J. (Jouke Jan), Geus, E.J.C. (Eco) de, Montgomery, G.W. (Grant), Whitfield, J. (John), Magnusson, P. (Patrik), Saharinen, J. (Juha), Perola, M. (Markus), Silander, K. (Kaisa), Isaacs, A.J. (Aaron), Sijbrands, E.J.G. (Eric), Uitterlinden, A.G. (André), Witteman, J.C.M. (Jacqueline), Oostra, B.A. (Ben), Elliott, P. (Paul), Ruokonen, A. (Aimo), Sabatti, C. (Chiara), Gieger, C. (Christian), Meitinger, T. (Thomas), Kronenberg, F. (Florian), Döring, A. (Angela), Wichmann, H.E. (Erich), Smit, J.H. (Johannes), McCarthy, M.I. (Mark), Tikka-Kleemola, P. (Päivi), and Peltonen, L. (Leena Johanna)
Abstract: Recent genome-wide association (GWA) studies of lipids have been conducted in samples ascertained for other phenotypes, particularly diabetes. Here we report the first GWA analysis of loci affecting total cholesterol (TC), low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol and triglycerides sampled randomly from 16 population-based cohorts and genotyped using mainly the Illumina HumanHap300-Duo platform. Our study included a total of 17,797-22,562 persons, aged 18-104 years and from geographic regions spanning from the Nordic countries to Southern Europe. We established 22 loci associated with serum lipid levels at a genome-wide significance level (P < 5 × 10-8), including 16 loci that were identified by previous GWA studies. The six newly identified loci in our cohort samples are ABCG5 (TC, P = 1.5 × 10-11; LDL, P = 2.6 × 10-10), TMEM57 (TC, P = 5.4 × 10-10), CTCF-PRMT8 region (HDL, P = 8.3 × 10-16), DNAH11 (LDL, P = 6.1 × 10-9), FADS3-FADS2 (TC, P = 1.5 × 10-10; LDL, P = 4.4 × 10-13) and MADD-FOLH1 region (HDL, P = 6 × 10-11). For three loci, effect sizes differed significantly by sex. Genetic risk scores based on lipid loci explain up to 4.8% of variation in lipids and were also associated with increased intima media thickness (P = 0.001) and coronary heart disease incidence (P = 0.04). The genetic risk score improves the screening of high-risk groups of dyslipidemia over classical risk factors.
Published: 2009
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28. Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

Author: Lindgren, C.M. (Cecilia), Heid, I.M. (Iris), Randall, J.C. (Joshua), Lamina, C. (Claudia), Steinthorsdottir, V. (Valgerdur), Qi, L. (Lu), Speliotes, E.K. (Elizabeth), Thorleifsson, G. (Gudmar), Willer, C.J. (Cristen), Herrera, B.M. (Blanca), Jackson, A.U. (Anne), Lim, N. (Noha), Scheet, P. (Paul), Soranzo, N. (Nicole), Amin, N. (Najaf), Aulchenko, Y.S. (Yurii), Chambers, J.C. (John), Drong, A. (Alexander), Luan, J., Lyon, H.N. (Helen), Rivadeneira Ramirez, F. (Fernando), Sanna, S. (Serena), Timpson, N.J. (Nicholas), Zillikens, M.C. (Carola), Jing, H.Z., Almgren, P. (Peter), Bandinelli, S. (Stefania), Bennett, A.J. (Amanda), Bergman, R.N. (Richard), Bonnycastle, L.L. (Lori), Bumpstead, S. (Suzannah), Chanock, S.J. (Stephen), Cherkas, L. (Lynn), Chines, P.S. (Peter), Coin, L. (Lachlan), Cooper, C. (Charles), Crawford, G. (Gabe), Doering, A. (Angela), Dominiczak, A. (Anna), Doney, A.S.F. (Alex), Ebrahim, S. (Shanil), Elliott, P. (Paul), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Ferrucci, L. (Luigi), Fischer, G. (Guido), Forouhi, N.G. (Nita), Gieger, C. (Christian), Grallert, H. (Harald), Groves, C.J. (Christopher), Grundy, S.M. (Scott), Guiducci, C. (Candace), Hadley, D. (David), Hamsten, A. (Anders), Havulinna, A.S. (Aki), Hofman, A. (Albert), Holle, R. (Rolf), Holloway, J.W. (John), Illig, T. (Thomas), Isomaa, B. (Bo), Jacobs, L.C. (Leonie), Jameson, K. (Karen), Jousilahti, P. (Pekka), Karpe, F. (Fredrik), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lathrop, G.M. (Mark), Lawlor, D.A. (Debbie), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Meitinger, T. (Thomas), Morken, M.A. (Mario), Morris, A.P. (Andrew), Munroe, P. (Patricia), Narisu, N. (Narisu), Nordström, A. (Anna), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Payne, F. (Felicity), Peden, J. (John), Prokopenko, I. (Inga), Renström, F. (Frida), Ruokonen, A. (Aimo), Salomaa, V. (Veikko), Sandhu, M.S. (Manjinder), Scott, L.J. (Laura), Scuteri, A. (Angelo), Silander, K. (Kaisa), Song, K. (Kijoung), Yuan, X. (Xin), Stringham, H.M. (Heather), Swift, A.J. (Amy), Tuomi, T. (Tiinamaija), Uda, M. (Manuela), Vollenweider, P. (Peter), Waeber, G. (Gérard), Wallace, C. (Chris), Walters, G.B. (Bragi), Weedon, M.N. (Michael), Witteman, J.C.M. (Jacqueline), Zhang, C. (Cuilin), Caulfield, M. (Mark), Collins, F.S. (Francis), Smith, A.V. (Davey), Day, I.N.M. (Ian), Franks, P.W. (Paul), Hattersley, A.T. (Andrew), Hu, F.B. (Frank), Jarvelin, M.-R. (Marjo-Riitta), Kong, A. (Augustine), Kooner, J.S. (Jaspal), Laakso, M. (Markku), Lakatta, E. (Edward), Mooser, V. (Vincent), Peltonen, L. (Leena Johanna), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Strachan, D.P. (David), Tanaka, T. (Toshiko), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Tikka-Kleemola, P. (Päivi), Wareham, N.J. (Nick), Watkins, H. (Hugh), Waterworth, D. (Dawn), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Groop, L. (Leif), Hunter, D.J. (David), Thorsteinsdottir, U. (Unnur), Schlessinger, D. (David), Wichmann, H.E. (Erich), Frayling, T.M. (Timothy), Abecasis, G.R. (Gonçalo), Hirschhorn, J.N. (Joel), Loos, R.J.F. (Ruth), Zwart, J-A. (John-Anker), Mohlke, K.L. (Karen), Barroso, I.E. (Inês), McCarthy, M.I. (Mark), Lindgren, C.M. (Cecilia), Heid, I.M. (Iris), Randall, J.C. (Joshua), Lamina, C. (Claudia), Steinthorsdottir, V. (Valgerdur), Qi, L. (Lu), Speliotes, E.K. (Elizabeth), Thorleifsson, G. (Gudmar), Willer, C.J. (Cristen), Herrera, B.M. (Blanca), Jackson, A.U. (Anne), Lim, N. (Noha), Scheet, P. (Paul), Soranzo, N. (Nicole), Amin, N. (Najaf), Aulchenko, Y.S. (Yurii), Chambers, J.C. (John), Drong, A. (Alexander), Luan, J., Lyon, H.N. (Helen), Rivadeneira Ramirez, F. (Fernando), Sanna, S. (Serena), Timpson, N.J. (Nicholas), Zillikens, M.C. (Carola), Jing, H.Z., Almgren, P. (Peter), Bandinelli, S. (Stefania), Bennett, A.J. (Amanda), Bergman, R.N. (Richard), Bonnycastle, L.L. (Lori), Bumpstead, S. (Suzannah), Chanock, S.J. (Stephen), Cherkas, L. (Lynn), Chines, P.S. (Peter), Coin, L. (Lachlan), Cooper, C. (Charles), Crawford, G. (Gabe), Doering, A. (Angela), Dominiczak, A. (Anna), Doney, A.S.F. (Alex), Ebrahim, S. (Shanil), Elliott, P. (Paul), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Ferrucci, L. (Luigi), Fischer, G. (Guido), Forouhi, N.G. (Nita), Gieger, C. (Christian), Grallert, H. (Harald), Groves, C.J. (Christopher), Grundy, S.M. (Scott), Guiducci, C. (Candace), Hadley, D. (David), Hamsten, A. (Anders), Havulinna, A.S. (Aki), Hofman, A. (Albert), Holle, R. (Rolf), Holloway, J.W. (John), Illig, T. (Thomas), Isomaa, B. (Bo), Jacobs, L.C. (Leonie), Jameson, K. (Karen), Jousilahti, P. (Pekka), Karpe, F. (Fredrik), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lathrop, G.M. (Mark), Lawlor, D.A. (Debbie), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Meitinger, T. (Thomas), Morken, M.A. (Mario), Morris, A.P. (Andrew), Munroe, P. (Patricia), Narisu, N. (Narisu), Nordström, A. (Anna), Oostra, B.A. (Ben), Palmer, C.N.A. (Colin), Payne, F. (Felicity), Peden, J. (John), Prokopenko, I. (Inga), Renström, F. (Frida), Ruokonen, A. (Aimo), Salomaa, V. (Veikko), Sandhu, M.S. (Manjinder), Scott, L.J. (Laura), Scuteri, A. (Angelo), Silander, K. (Kaisa), Song, K. (Kijoung), Yuan, X. (Xin), Stringham, H.M. (Heather), Swift, A.J. (Amy), Tuomi, T. (Tiinamaija), Uda, M. (Manuela), Vollenweider, P. (Peter), Waeber, G. (Gérard), Wallace, C. (Chris), Walters, G.B. (Bragi), Weedon, M.N. (Michael), Witteman, J.C.M. (Jacqueline), Zhang, C. (Cuilin), Caulfield, M. (Mark), Collins, F.S. (Francis), Smith, A.V. (Davey), Day, I.N.M. (Ian), Franks, P.W. (Paul), Hattersley, A.T. (Andrew), Hu, F.B. (Frank), Jarvelin, M.-R. (Marjo-Riitta), Kong, A. (Augustine), Kooner, J.S. (Jaspal), Laakso, M. (Markku), Lakatta, E. (Edward), Mooser, V. (Vincent), Peltonen, L. (Leena Johanna), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Strachan, D.P. (David), Tanaka, T. (Toshiko), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), Tikka-Kleemola, P. (Päivi), Wareham, N.J. (Nick), Watkins, H. (Hugh), Waterworth, D. (Dawn), Boehnke, M. (Michael), Deloukas, P. (Panagiotis), Groop, L. (Leif), Hunter, D.J. (David), Thorsteinsdottir, U. (Unnur), Schlessinger, D. (David), Wichmann, H.E. (Erich), Frayling, T.M. (Timothy), Abecasis, G.R. (Gonçalo), Hirschhorn, J.N. (Joel), Loos, R.J.F. (Ruth), Zwart, J-A. (John-Anker), Mohlke, K.L. (Karen), Barroso, I.E. (Inês), and McCarthy, M.I. (Mark)
Abstract: To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist circumference (WC) and waist-hip ratio (WHR). We selected 26 SNPs for follow-up, for which the evidence of association with measures of central adiposity (WC and/or WHR) was strong and disproportionate to that for overall adiposity or height. Follow-up studies in a maximum of 70,689 individuals identified two loci strongly associated with measures of central adiposity; these map near TFAP2B (WC, P = 1.9×102-11) and MSRA (WC, P = 8.9×10-9). A third locus, near LYPLAL1, was associated with WHR in women only (P = 2.6×10-8). The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/fat-mass, whereas LYPLAL1 displays a strong female-only association with fat distribution. By focusing on anthropometric measures of central obesity and fat distribution, we have identified three loci implicated in the regulation of human
Published: 2009
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29. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

Author: Willer, C.J. (Cristen), Speliotes, E.K. (Elizabeth), Loos, R.J.F. (Ruth), Li, S. (Shengxu), Lindgren, C.M. (Cecilia), Heid, I.M. (Iris), Berndt, S.I. (Sonja), Elliott, A.L. (Amanda), Jackson, A.U. (Anne), Lamina, C. (Claudia), Lettre, G. (Guillaume), Lim, N. (Noha), Lyon, H.N. (Helen), McCarroll, S.A. (Steven), Papadakis, K. (Konstantinos), Qi, L. (Lu), Randall, J.C. (Joshua), Roccasecca, R.M., Sanna, S. (Serena), Scheet, P. (Paul), Weedon, M.N. (Michael), Wheeler, E. (Eleanor), Zhao, J.H. (Jing Hua), Jacobs, L.C. (Leonie), Prokopenko, I. (Inga), Soranzo, N. (Nicole), Tanaka, T. (Toshiko), Timpson, N.J. (Nicholas), Almgren, P. (Peter), Bennett, A.J. (Amanda), Bergman, R.N. (Richard), Bingham, S. (Sheila), Bonnycastle, L.L. (Lori), Brown, M.J. (Morris), Burtt, N.P. (Noël), Chines, P.S. (Peter), Coin, L. (Lachlan), Collins, F.S. (Francis), Connell, J. (John), Cooper, C. (Charles), Smith, A.V. (Davey), Dennison, E.M. (Elaine), Deodhar, P. (Parimal), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Evans, D.M. (David), Gianniny, L. (Lauren), Gieger, C. (Christian), Gillson, C.J. (Christopher), Guiducci, C. (Candace), Hackett, R. (Rachel), Hadley, D. (David), Hall, A.S. (Alistair), Havulinna, A.S. (Aki), Hebebrand, J. (Johannes), Hofman, A. (Albert), Isomaa, B. (Bo), Johnson, T. (Toby), Jousilahti, P. (Pekka), Jovanovic, Z. (Zorica), Khaw, K-T. (Kay-Tee), Kraft, P. (Peter), Kuokkanen, M. (Mikko), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakatta, E. (Edward), Luan, J., Luben, R.N. (Robert), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Meitinger, T. (Thomas), Mulas, A. (Antonella), Munroe, P. (Patricia), Narisu, N. (Narisu), Ness, A.R. (Andrew), Northstone, K. (Kate), O'Rahilly, S. (Stephen), Purmann, C. (Carolin), Rees, M.G. (Matthew), Ridderstråle, M. (Martin), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Ruokonen, A. (Aimo), Sandhu, M.S. (Manjinder), Saramies, J. (Jouko), Scott, L.J. (Laura), Scuteri, A. (Angelo), Silander, K. (Kaisa), Sims, M.A. (Matthew), Song, K. (Kijoung), Stephens, J. (Jonathan), Stevens, S. (Suzanne), Stringham, H.M. (Heather), Tung, Y.C.L. (Loraine), Valle, T.T. (Timo), Tikka-Kleemola, P. (Päivi), Vimaleswaran, K.S. (Karani), Vollenweider, P. (Peter), Waeber, G. (Gérard), Wallace, C. (Chris), Watanabe, R.M. (Richard), Waterworth, D. (Dawn), Watkins, N. (Nicholas), Witteman, J.C.M. (Jacqueline), Zeggini, E. (Eleftheria), Zhai, G. (Guangju), Zillikens, M.C. (Carola), Altshuler, D. (David), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Farooqi, I.S. (Sadaf), Ferrucci, L. (Luigi), Guralnik, J.M. (Jack), Hattersley, A.T. (Andrew), Hu, F.B. (Frank), Jarvelin, M.-R. (Marjo-Riitta), Laakso, M. (Markku), Mooser, V. (Vincent), Ong, K.K. (Ken), Ouwehand, W.H. (Willem), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Tuomi, T. (Tiinamaija), Tuomilehto, J. (Jaakko), Uda, M. (Manuela), Uitterlinden, A.G. (André), Deloukas, P. (Panagiotis), Wareham, N.J. (Nick), Frayling, T.M. (Timothy), Groop, L. (Leif), Hayes, R.B. (Richard), Hunter, D. (David), Mohlke, K.L. (Karen), Peltonen, L. (Leena Johanna), Schlessinger, D. (David), Strachan, D.P. (David), Wichmann, H.E. (Erich), McCarthy, M.I. (Mark), Boehnke, M. (Michael), Barroso, I.E. (Inês), Abecasis, G.R. (Gonçalo), Hirschhorn, J.N. (Joel), Willer, C.J. (Cristen), Speliotes, E.K. (Elizabeth), Loos, R.J.F. (Ruth), Li, S. (Shengxu), Lindgren, C.M. (Cecilia), Heid, I.M. (Iris), Berndt, S.I. (Sonja), Elliott, A.L. (Amanda), Jackson, A.U. (Anne), Lamina, C. (Claudia), Lettre, G. (Guillaume), Lim, N. (Noha), Lyon, H.N. (Helen), McCarroll, S.A. (Steven), Papadakis, K. (Konstantinos), Qi, L. (Lu), Randall, J.C. (Joshua), Roccasecca, R.M., Sanna, S. (Serena), Scheet, P. (Paul), Weedon, M.N. (Michael), Wheeler, E. (Eleanor), Zhao, J.H. (Jing Hua), Jacobs, L.C. (Leonie), Prokopenko, I. (Inga), Soranzo, N. (Nicole), Tanaka, T. (Toshiko), Timpson, N.J. (Nicholas), Almgren, P. (Peter), Bennett, A.J. (Amanda), Bergman, R.N. (Richard), Bingham, S. (Sheila), Bonnycastle, L.L. (Lori), Brown, M.J. (Morris), Burtt, N.P. (Noël), Chines, P.S. (Peter), Coin, L. (Lachlan), Collins, F.S. (Francis), Connell, J. (John), Cooper, C. (Charles), Smith, A.V. (Davey), Dennison, E.M. (Elaine), Deodhar, P. (Parimal), Erdos, M.R. (Michael), Estrada Gil, K. (Karol), Evans, D.M. (David), Gianniny, L. (Lauren), Gieger, C. (Christian), Gillson, C.J. (Christopher), Guiducci, C. (Candace), Hackett, R. (Rachel), Hadley, D. (David), Hall, A.S. (Alistair), Havulinna, A.S. (Aki), Hebebrand, J. (Johannes), Hofman, A. (Albert), Isomaa, B. (Bo), Johnson, T. (Toby), Jousilahti, P. (Pekka), Jovanovic, Z. (Zorica), Khaw, K-T. (Kay-Tee), Kraft, P. (Peter), Kuokkanen, M. (Mikko), Kuusisto, J. (Johanna), Laitinen, J. (Jaana), Lakatta, E. (Edward), Luan, J., Luben, R.N. (Robert), Mangino, M. (Massimo), McArdle, W.L. (Wendy), Meitinger, T. (Thomas), Mulas, A. (Antonella), Munroe, P. (Patricia), Narisu, N. (Narisu), Ness, A.R. (Andrew), Northstone, K. (Kate), O'Rahilly, S. (Stephen), Purmann, C. (Carolin), Rees, M.G. (Matthew), Ridderstråle, M. (Martin), Ring, S.M. (Susan), Rivadeneira Ramirez, F. (Fernando), Ruokonen, A. (Aimo), Sandhu, M.S. (Manjinder), Saramies, J. (Jouko), Scott, L.J. (Laura), Scuteri, A. (Angelo), Silander, K. (Kaisa), Sims, M.A. (Matthew), Song, K. (Kijoung), Stephens, J. (Jonathan), Stevens, S. (Suzanne), Stringham, H.M. (Heather), Tung, Y.C.L. (Loraine), Valle, T.T. (Timo), Tikka-Kleemola, P. (Päivi), Vimaleswaran, K.S. (Karani), Vollenweider, P. (Peter), Waeber, G. (Gérard), Wallace, C. (Chris), Watanabe, R.M. (Richard), Waterworth, D. (Dawn), Watkins, N. (Nicholas), Witteman, J.C.M. (Jacqueline), Zeggini, E. (Eleftheria), Zhai, G. (Guangju), Zillikens, M.C. (Carola), Altshuler, D. (David), Caulfield, M. (Mark), Chanock, S.J. (Stephen), Farooqi, I.S. (Sadaf), Ferrucci, L. (Luigi), Guralnik, J.M. (Jack), Hattersley, A.T. (Andrew), Hu, F.B. (Frank), Jarvelin, M.-R. (Marjo-Riitta), Laakso, M. (Markku), Mooser, V. (Vincent), Ong, K.K. (Ken), Ouwehand, W.H. (Willem), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Spector, T.D. (Timothy), Tuomi, T. (Tiinamaija), Tuomilehto, J. (Jaakko), Uda, M. (Manuela), Uitterlinden, A.G. (André), Deloukas, P. (Panagiotis), Wareham, N.J. (Nick), Frayling, T.M. (Timothy), Groop, L. (Leif), Hayes, R.B. (Richard), Hunter, D. (David), Mohlke, K.L. (Karen), Peltonen, L. (Leena Johanna), Schlessinger, D. (David), Strachan, D.P. (David), Wichmann, H.E. (Erich), McCarthy, M.I. (Mark), Boehnke, M. (Michael), Barroso, I.E. (Inês), Abecasis, G.R. (Gonçalo), and Hirschhorn, J.N. (Joel)
Abstract: Common variants at only two loci, FTO and MC4R, have been reproducibly associated with body mass index (BMI) in humans. To identify additional loci, we conducted meta-analysis of 15 genome-wide association studies for BMI (n > 32,000) and followed up top signals in 14 additional cohorts (n > 59,000). We strongly confirm FTO and MC4R and identify six additional loci (P < 5 × 10-8): TMEM18, KCTD15, GNPDA2, SH2B1, MTCH2 and NEGR1 (where a 45-kb deletion polymorphism is a candidate causal variant). Several of the likely causal genes are highly expressed or known to act in the central nervous system (CNS), emphasizing, as in rare monogenic forms of obesity, the role of the CNS in predisposition to obesity.
Published: 2009
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29 results on '"Heid, I.M. (Iris)"'

1. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

2. Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria

3. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

4. Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

5. Rare and low-frequency coding variants alter human adult height

6. 1000 Genomes-based metaanalysis identifies 10 novel loci for kidney function

7. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

8. Genome-wide physical activity interactions in adiposity ― A meta-analysis of 200,452 adults

9. A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

10. A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

11. The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

12. New genetic loci link adipose and insulin biology to body fat distribution

13. Genome-wide association study of kidney function decline in individuals of European descent

14. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

15. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

16. Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropomet

17. Common variants in mendelian kidney disease genes and their association with renal function

18. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: A multi-ethnic meta-analysis of 45,891 individuals

19. Genome-wide meta-analysis of common variant differences between men and women

20. Genome-wide association and functional follow-up reveals new loci for kidney function

21. Association of eGFR-related loci identified by GWAS with incident CKD and ESRD

22. Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: Results of genome-wide association analyses including 4659 European individuals

23. Hundreds of variants clustered in genomic loci and biological pathways affect human height

24. Biological, clinical and population relevance of 95 loci for blood lipids

25. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

26. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

27. Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts

28. Genome-wide association scan meta-analysis identifies three loci influencing adiposity and fat distribution

29. Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

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29 results on '"Heid, I.M. (Iris)"'

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