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1. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Author: Lagou, V. (Vasiliki), Mägi, R. (Reedik), Hottenga, J.J. (Jouke Jan), Grallert, H. (Harald), Perry, J.R.B. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J. (Josine), Dimas, A.S. (Antigone), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gådin, J.R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amélie), Fadista, J. (João), Stathopoulou, M.G. (Maria G), Isaacs, A. (Aaron), Willems, S.M. (Sara), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A.U. (Anne U.), Montasser, M.E. (May E.), O’Connell, J.R. (Jeff R.), Bielak, L.F. (Lawrence F.), Webster, R.J. (Rebecca J.), Meitinger, T. (Thomas), Stafford, M., Pourcain, B.S. (Beate St), Timpson, N.J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y., Amin, N. (Najaf), Smith, A.V. (Albert), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P.C.D. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R.J. (Rona), Rasmussen-Torvik, L.J. (Laura), Esko, T. (Tõnu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R.M. (Ross), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M.E. (Marcus E.), Silbernagel, G. (Günther), Meyer, J. (Julia), Müller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P., Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian’an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N.W. (Nigel William), Nolte, I.M. (Ilja), Zemunik, T. (Tatijana), Iperen, E. (Erik van), Kovacs, P. (Peter), Hastie, N. (Nick), Wild, S.H. (Sarah H.), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O.D. (Olga), Egan, J. (Josephine), Kieß, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A.A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Kao, W.H.L. (Wen), Doney, A.S.F. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A.J. (Amanda J.), Groves, C.J. (Christopher J.), Herder, C. (Christian), Koistinen, H.A. (Heikki A.), Kinnunen, L. (Leena), Faire, U.D. (Ulf), Bakker, S.J.L. (Stephan), Uusitupa, M. (Matti), Palmer, C.N.A. (Colin N. A.), Jukema, J.W. (Jan Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E.A. (Eric), Palmer, C.N.A. (Colin), Magnusson, P.K. (Patrik), Krus, U. (Ulrika), Scapoli, C. (Chiara), de Geus, E.J.C.N. (Eco J. C. N.), Blüher, M. (Matthias), Wolffenbuttel, B.H.R. (Bruce), Province, M.A. (Michael A.), Abecasis, G.R. (Goncalo R.), Meigs, J.B. (James B.), Hovingh, G.K. (G. Kees), Lindström, J. (Jaana), Wilson, J.F. (James F.), Wright, A.F. (Alan F.), Dedoussis, G.V. (George), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Tönjes, A. (Anke), Winkelmann, B., Boehm, B.O. (Bernhard O.), März, W. (Winfried), Metspalu, A. (Andres), Price, J.F. (Jackie F.), Deloukas, P. (Panos), Körner, A. (Antje), Lakka, T.A. (Timo), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Bergman, R.N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Männistö, S. (Satu), Franks, P.W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), van Duijn, C.M. (Cornelia M.), Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N.L. (Nancy L.), Pramstaller, P.P. (Peter Paul), Boehnke, M. (Michael), Frayling, T.M. (Timothy M.), Shuldiner, A.R. (Alan R.), Peyser, P.A. (Patricia A.), Kardia, S.L.R. (Sharon L. R.), Palmer, L.J. (Lyle J.), Penninx, B.W.J.H. (Brenda), Meneton, P. (Pierre), Harris, T.B. (Tamara), Navis, G. (Gerjan), Harst, P. (Pim van der), Smith, G.D. (George Davey), Forouhi, N.G. (Nita), Loos, R.J.F. (Ruth), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D.I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P.B. (Patricia B.), Gudnason, V. (Vilmundur), Siscovick, D.S. (David), Watkins, H. (Hugh), Lecoeur, C. (Cécile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Zwart, J-A. (John-Anker), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Frants, R.R. (Rune), Lindgren, C.M. (Cecilia M.), McCarthy, M.I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M.A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R.M. (Richard), Ingelsson, E. (Erik), Sijbrands, E.J.G. (Eric), Dupuis, J. (Josée), Barroso, I.E. (Inês), Morris, A.P. (Andrew P.), Prokopenko, I. (Inga), Lagou, V. (Vasiliki), Mägi, R. (Reedik), Hottenga, J.J. (Jouke Jan), Grallert, H. (Harald), Perry, J.R.B. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J. (Josine), Dimas, A.S. (Antigone), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gådin, J.R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amélie), Fadista, J. (João), Stathopoulou, M.G. (Maria G), Isaacs, A. (Aaron), Willems, S.M. (Sara), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A.U. (Anne U.), Montasser, M.E. (May E.), O’Connell, J.R. (Jeff R.), Bielak, L.F. (Lawrence F.), Webster, R.J. (Rebecca J.), Meitinger, T. (Thomas), Stafford, M., Pourcain, B.S. (Beate St), Timpson, N.J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y., Amin, N. (Najaf), Smith, A.V. (Albert), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P.C.D. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R.J. (Rona), Rasmussen-Torvik, L.J. (Laura), Esko, T. (Tõnu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R.M. (Ross), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M.E. (Marcus E.), Silbernagel, G. (Günther), Meyer, J. (Julia), Müller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P., Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian’an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N.W. (Nigel William), Nolte, I.M. (Ilja), Zemunik, T. (Tatijana), Iperen, E. (Erik van), Kovacs, P. (Peter), Hastie, N. (Nick), Wild, S.H. (Sarah H.), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O.D. (Olga), Egan, J. (Josephine), Kieß, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A.A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Kao, W.H.L. (Wen), Doney, A.S.F. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A.J. (Amanda J.), Groves, C.J. (Christopher J.), Herder, C. (Christian), Koistinen, H.A. (Heikki A.), Kinnunen, L. (Leena), Faire, U.D. (Ulf), Bakker, S.J.L. (Stephan), Uusitupa, M. (Matti), Palmer, C.N.A. (Colin N. A.), Jukema, J.W. (Jan Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E.A. (Eric), Palmer, C.N.A. (Colin), Magnusson, P.K. (Patrik), Krus, U. (Ulrika), Scapoli, C. (Chiara), de Geus, E.J.C.N. (Eco J. C. N.), Blüher, M. (Matthias), Wolffenbuttel, B.H.R. (Bruce), Province, M.A. (Michael A.), Abecasis, G.R. (Goncalo R.), Meigs, J.B. (James B.), Hovingh, G.K. (G. Kees), Lindström, J. (Jaana), Wilson, J.F. (James F.), Wright, A.F. (Alan F.), Dedoussis, G.V. (George), Bornstein, S.R. (Stefan), Schwarz, P.E.H. (Peter), Tönjes, A. (Anke), Winkelmann, B., Boehm, B.O. (Bernhard O.), März, W. (Winfried), Metspalu, A. (Andres), Price, J.F. (Jackie F.), Deloukas, P. (Panos), Körner, A. (Antje), Lakka, T.A. (Timo), Keinanen-Kiukaanniemi, S. (Sirkka), Saaristo, T. (Timo), Bergman, R.N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N.J. (Nick), Langenberg, C. (Claudia), Männistö, S. (Satu), Franks, P.W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), van Duijn, C.M. (Cornelia M.), Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N.L. (Nancy L.), Pramstaller, P.P. (Peter Paul), Boehnke, M. (Michael), Frayling, T.M. (Timothy M.), Shuldiner, A.R. (Alan R.), Peyser, P.A. (Patricia A.), Kardia, S.L.R. (Sharon L. R.), Palmer, L.J. (Lyle J.), Penninx, B.W.J.H. (Brenda), Meneton, P. (Pierre), Harris, T.B. (Tamara), Navis, G. (Gerjan), Harst, P. (Pim van der), Smith, G.D. (George Davey), Forouhi, N.G. (Nita), Loos, R.J.F. (Ruth), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D.I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P.B. (Patricia B.), Gudnason, V. (Vilmundur), Siscovick, D.S. (David), Watkins, H. (Hugh), Lecoeur, C. (Cécile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Zwart, J-A. (John-Anker), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Frants, R.R. (Rune), Lindgren, C.M. (Cecilia M.), McCarthy, M.I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M.A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R.M. (Richard), Ingelsson, E. (Erik), Sijbrands, E.J.G. (Eric), Dupuis, J. (Josée), Barroso, I.E. (Inês), Morris, A.P. (Andrew P.), and Prokopenko, I. (Inga)
Abstract: Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.
Published: 2021
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2. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

Author: Lagou, V. (Vasiliki), Maegi, R. (Reedik), Hottenga, J. J. (Jouke- Jan), Grallert, H. (Harald), Perry, J. R. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J. L. (Josine L.), Dimas, A. S. (Antigone S.), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gadin, J. R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amelie), Fadista, J. (Joao), Stathopoulou, M. G. (Maria G.), Isaacs, A. (Aaron), Willems, S. M. (Sara M.), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A. U. (Anne U.), Montasser, M. E. (May E.), O'Connell, J. R. (Jeff R.), Bielak, L. F. (Lawrence F.), Webster, R. J. (Rebecca J.), Saxena, R. (Richa), Stafford, J. M. (Jeanette M.), Pourcain, B. S. (Beate St), Timpson, N. J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y. (So-Youn), Amin, N. (Najaf), Smith, A. V. (Albert V.), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P. C. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R. J. (Rona J.), Rasmussen-Torvik, L. J. (Laura J.), Esko, T. (Tonu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R. M. (Ross M.), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M. E. (Marcus E.), Silbernagel, G. (Guenther), Meyer, J. (Julia), Mueller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P. (Antti-Pekka), Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian'an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N. W. (N. William), Nolte, I. M. (Ilja M.), Zemunik, T. (Tatijana), Iperen, E. v. (Erik van), Kovacs, P. (Peter), Hastie, N. D. (Nicholas D.), Wild, S. H. (Sarah H.), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O. (Olga), Egan, J. (Josephine), Kiess, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A. A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Lind, L. (Lars), Doney, A. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A. J. (Amanda J.), Groves, C. J. (Christopher J.), Herder, C. (Christian), Koistinen, H. A. (Heikki A.), Kinnunen, L. (Leena), Faire, U. d. (Ulf de), Bakker, S. J. (Stephan J. L.), Uusitupa, M. (Matti), Palmer, C. N. (Colin N. A.), Jukema, J. W. (J. Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E. (Eric), Pankow, J. S. (James S.), Magnusson, P. K. (Patrik K.), Krus, U. (Ulrika), Scapoli, C. (Chiara), de Geus, E. J. (Eco J. C. N.), Blueher, M. (Matthias), Wolffenbuttel, B. H. (Bruce H. R.), Province, M. A. (Michael A.), Abecasis, G. R. (Goncalo R.), Meigs, J. B. (James B.), Hovingh, G. K. (G. Kees), Lindstroem, J. (Jaana), Wilson, J. F. (James F.), Wright, A. F. (Alan F.), Dedoussis, G. V. (George V.), Bornstein, S. R. (Stefan R.), Schwarz, P. E. (Peter E. H.), Toenjes, A. (Anke), Winkelmann, B. R. (Bernhard R.), Boehm, B. O. (Bernhard O.), Maerz, W. (Winfried), Metspalu, A. (Andres), Price, J. F. (Jackie F.), Deloukas, P. (Panos), Koerner, A. (Antje), Lakka, T. A. (Timo A.), Keinanen-Kiukaanniemi, S. M. (Sirkka M.), Saaristo, T. E. (Timo E.), Bergman, R. N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Maennistoe, S. (Satu), Franks, P. W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), van Duijn, C. M. (Cornelia M.), Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N. L. (Nancy L.), Pramstaller, P. P. (Peter P.), Boehnke, M. (Michael), Frayling, T. M. (Timothy M.), Shuldiner, A. R. (Alan R.), Peyser, P. A. (Patricia A.), Kardia, S. L. (Sharon L. R.), Palmer, L. J. (Lyle J.), Penninx, B. W. (Brenda W.), Meneton, P. (Pierre), Harris, T. B. (Tamara B.), Navis, G. (Gerjan), Harst, P. v. (Pim van der), Smith, G. D. (George Davey), Forouhi, N. G. (Nita G.), Loos, R. J. (Ruth J. F.), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D. I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P. B. (Patricia B.), Gudnason, V. (Vilmundur), Siscovick, D. S. (David S.), Watkins, H. (Hugh), Lecoeur, C. (Cecile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Stefansson, K. (Kari), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Dermitzakis, E. T. (Emmanouil T.), Lindgren, C. M. (Cecilia M.), McCarthy, M. I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M. A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R. M. (Richard M.), Ingelsson, E. (Erik), Florez, J. C. (Jose C.), Dupuis, J. (Josee), Barroso, I. (Ines), Morris, A. P. (Andrew P.), Prokopenko, I. (Inga), Lagou, V. (Vasiliki), Maegi, R. (Reedik), Hottenga, J. J. (Jouke- Jan), Grallert, H. (Harald), Perry, J. R. (John R. B.), Bouatia-Naji, N. (Nabila), Marullo, L. (Letizia), Rybin, D. (Denis), Jansen, R. (Rick), Min, J. L. (Josine L.), Dimas, A. S. (Antigone S.), Ulrich, A. (Anna), Zudina, L. (Liudmila), Gadin, J. R. (Jesper R.), Jiang, L. (Longda), Faggian, A. (Alessia), Bonnefond, A. (Amelie), Fadista, J. (Joao), Stathopoulou, M. G. (Maria G.), Isaacs, A. (Aaron), Willems, S. M. (Sara M.), Navarro, P. (Pau), Tanaka, T. (Toshiko), Jackson, A. U. (Anne U.), Montasser, M. E. (May E.), O'Connell, J. R. (Jeff R.), Bielak, L. F. (Lawrence F.), Webster, R. J. (Rebecca J.), Saxena, R. (Richa), Stafford, J. M. (Jeanette M.), Pourcain, B. S. (Beate St), Timpson, N. J. (Nicholas J.), Salo, P. (Perttu), Shin, S.-Y. (So-Youn), Amin, N. (Najaf), Smith, A. V. (Albert V.), Li, G. (Guo), Verweij, N. (Niek), Goel, A. (Anuj), Ford, I. (Ian), Johnson, P. C. (Paul C. D.), Johnson, T. (Toby), Kapur, K. (Karen), Thorleifsson, G. (Gudmar), Strawbridge, R. J. (Rona J.), Rasmussen-Torvik, L. J. (Laura J.), Esko, T. (Tonu), Mihailov, E. (Evelin), Fall, T. (Tove), Fraser, R. M. (Ross M.), Mahajan, A. (Anubha), Kanoni, S. (Stavroula), Giedraitis, V. (Vilmantas), Kleber, M. E. (Marcus E.), Silbernagel, G. (Guenther), Meyer, J. (Julia), Mueller-Nurasyid, M. (Martina), Ganna, A. (Andrea), Sarin, A.-P. (Antti-Pekka), Yengo, L. (Loic), Shungin, D. (Dmitry), Luan, J. (Jian'an), Horikoshi, M. (Momoko), An, P. (Ping), Sanna, S. (Serena), Boettcher, Y. (Yvonne), Rayner, N. W. (N. William), Nolte, I. M. (Ilja M.), Zemunik, T. (Tatijana), Iperen, E. v. (Erik van), Kovacs, P. (Peter), Hastie, N. D. (Nicholas D.), Wild, S. H. (Sarah H.), McLachlan, S. (Stela), Campbell, S. (Susan), Polasek, O. (Ozren), Carlson, O. (Olga), Egan, J. (Josephine), Kiess, W. (Wieland), Willemsen, G. (Gonneke), Kuusisto, J. (Johanna), Laakso, M. (Markku), Dimitriou, M. (Maria), Hicks, A. A. (Andrew A.), Rauramaa, R. (Rainer), Bandinelli, S. (Stefania), Thorand, B. (Barbara), Liu, Y. (Yongmei), Miljkovic, I. (Iva), Lind, L. (Lars), Doney, A. (Alex), Perola, M. (Markus), Hingorani, A. (Aroon), Kivimaki, M. (Mika), Kumari, M. (Meena), Bennett, A. J. (Amanda J.), Groves, C. J. (Christopher J.), Herder, C. (Christian), Koistinen, H. A. (Heikki A.), Kinnunen, L. (Leena), Faire, U. d. (Ulf de), Bakker, S. J. (Stephan J. L.), Uusitupa, M. (Matti), Palmer, C. N. (Colin N. A.), Jukema, J. W. (J. Wouter), Sattar, N. (Naveed), Pouta, A. (Anneli), Snieder, H. (Harold), Boerwinkle, E. (Eric), Pankow, J. S. (James S.), Magnusson, P. K. (Patrik K.), Krus, U. (Ulrika), Scapoli, C. (Chiara), de Geus, E. J. (Eco J. C. N.), Blueher, M. (Matthias), Wolffenbuttel, B. H. (Bruce H. R.), Province, M. A. (Michael A.), Abecasis, G. R. (Goncalo R.), Meigs, J. B. (James B.), Hovingh, G. K. (G. Kees), Lindstroem, J. (Jaana), Wilson, J. F. (James F.), Wright, A. F. (Alan F.), Dedoussis, G. V. (George V.), Bornstein, S. R. (Stefan R.), Schwarz, P. E. (Peter E. H.), Toenjes, A. (Anke), Winkelmann, B. R. (Bernhard R.), Boehm, B. O. (Bernhard O.), Maerz, W. (Winfried), Metspalu, A. (Andres), Price, J. F. (Jackie F.), Deloukas, P. (Panos), Koerner, A. (Antje), Lakka, T. A. (Timo A.), Keinanen-Kiukaanniemi, S. M. (Sirkka M.), Saaristo, T. E. (Timo E.), Bergman, R. N. (Richard N.), Tuomilehto, J. (Jaakko), Wareham, N. J. (Nicholas J.), Langenberg, C. (Claudia), Maennistoe, S. (Satu), Franks, P. W. (Paul W.), Hayward, C. (Caroline), Vitart, V. (Veronique), Kaprio, J. (Jaakko), Visvikis-Siest, S. (Sophie), Balkau, B. (Beverley), Altshuler, D. (David), Rudan, I. (Igor), Stumvoll, M. (Michael), Campbell, H. (Harry), van Duijn, C. M. (Cornelia M.), Gieger, C. (Christian), Illig, T. (Thomas), Ferrucci, L. (Luigi), Pedersen, N. L. (Nancy L.), Pramstaller, P. P. (Peter P.), Boehnke, M. (Michael), Frayling, T. M. (Timothy M.), Shuldiner, A. R. (Alan R.), Peyser, P. A. (Patricia A.), Kardia, S. L. (Sharon L. R.), Palmer, L. J. (Lyle J.), Penninx, B. W. (Brenda W.), Meneton, P. (Pierre), Harris, T. B. (Tamara B.), Navis, G. (Gerjan), Harst, P. v. (Pim van der), Smith, G. D. (George Davey), Forouhi, N. G. (Nita G.), Loos, R. J. (Ruth J. F.), Salomaa, V. (Veikko), Soranzo, N. (Nicole), Boomsma, D. I. (Dorret I.), Groop, L. (Leif), Tuomi, T. (Tiinamaija), Hofman, A. (Albert), Munroe, P. B. (Patricia B.), Gudnason, V. (Vilmundur), Siscovick, D. S. (David S.), Watkins, H. (Hugh), Lecoeur, C. (Cecile), Vollenweider, P. (Peter), Franco-Cereceda, A. (Anders), Eriksson, P. (Per), Jarvelin, M.-R. (Marjo-Riitta), Stefansson, K. (Kari), Hamsten, A. (Anders), Nicholson, G. (George), Karpe, F. (Fredrik), Dermitzakis, E. T. (Emmanouil T.), Lindgren, C. M. (Cecilia M.), McCarthy, M. I. (Mark I.), Froguel, P. (Philippe), Kaakinen, M. A. (Marika A.), Lyssenko, V. (Valeriya), Watanabe, R. M. (Richard M.), Ingelsson, E. (Erik), Florez, J. C. (Jose C.), Dupuis, J. (Josee), Barroso, I. (Ines), Morris, A. P. (Andrew P.), and Prokopenko, I. (Inga)
Abstract: Differences between sexes contribute to variation in the levels of fasting glucose and insulin. Epidemiological studies established a higher prevalence of impaired fasting glucose in men and impaired glucose tolerance in women, however, the genetic component underlying this phenomenon is not established. We assess sex-dimorphic (73,089/50,404 women and 67,506/47,806 men) and sex-combined (151,188/105,056 individuals) fasting glucose/fasting insulin genetic effects via genome-wide association study meta-analyses in individuals of European descent without diabetes. Here we report sex dimorphism in allelic effects on fasting insulin at IRS1 and ZNF12 loci, the latter showing higher RNA expression in whole blood in women compared to men. We also observe sex-homogeneous effects on fasting glucose at seven novel loci. Fasting insulin in women shows stronger genetic correlations than in men with waist-to-hip ratio and anorexia nervosa. Furthermore, waist-to-hip ratio is causally related to insulin resistance in women, but not in men. These results position dissection of metabolic and glycemic health sex dimorphism as a steppingstone for understanding differences in genetic effects between women and men in related phenotypes.
Published: 2021

3. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

Author: Kilpeläinen, T.O. (Tuomas), Bentley, A.R. (Amy), Noordam, R., Sung, YJ, Schwander, K., Winkler, T.W. (Thomas), Jakupovic, H., Chasman, D.I. (Daniel), Manning, A., Ntalla, I. (Ioanna), Aschard, H. (Hugues), Brown, M.R., de Las Fuentes, L., Franceschini, N. (Nora), Guo, X. (Xiuqing), Vojinovic, D., Aslibekyan, S, Feitosa, M.F. (Mary Furlan), Kho, M., Musani, SK, Richard, M., Wang, H.M., Wang, Z. (Zhen), Bartz, TM, Bielak, L.F. (Lawrence F.), Campbell, A. (Archie), Dorajoo, R. (Rajkumar), Fisher, V., Hartwig, F.P., Horimoto, A., Li, C.W., Lohman, K. (Kurt), Marten, J, Sim, XL, Smith, A.V. (Davey), Tajuddin, S. M., Alver, M, Amini, M., Boissel, M., Chai, J.F., Chen, X. (Xishu), Divers, J, Evangelou, E. (Evangelos), Gao, C. (Cheng), Graff, M.J. (Maud J.L.), Harris, S.E. (Sarah), He, M. (Meian), Hsu, F.-C. (Fang-Chi), Jackson, A.U. (Anne), Zhao, J.H. (Jing Hua), Kraja, A. (Aldi), Kuhnel, B. (Brigitte), Laguzzi, F., Lyytikäinen, L.-P. (Leo-Pekka), Nolte, IM, Rauramaa, R. (Rainer), Riaz, M. (Muhammad), Robino, A. (Antonietta), Rueedi, R, Stringham, H.M. (Heather), Takeuchi, F, Most, P.J. (Peter) van der, Varga, T.V. (Tibor), Verweij, N. (Niek), Ware, EB, Wen, WQ, Li, X. Y., Yanek, L.R. (Lisa), Amin, N. (Najaf), Arnett, D.K. (Donna), Boerwinkle, E.A. (Eric), Brumat, M., Cade, B, Canouil, M., Chen, Y.D.I. (Yii-Der Ida), Concas, MP, Connell, J. (John), Mutsert, R. (Reneé) de, de Silva, H.J., de Vries, PS, Demirkan, A. (Ayşe), Ding, J. (Jingzhong), Eaton, CB, Faul, J.D. (Jessica), Friedlander, Y. (Yechiel), Gabriel, K.P., Ghanbari, M., Giulianini, F. (Franco), Gu, C.C., Gu, DF, Harris, T.B. (Tamara), He, J. (Jing), Heikkinen, S., Heng, C.K. (Chew-Kiat), Hunt, S.C. (Steven), Ikram, M.A. (Arfan), Jonas, J.B., Koh, WP, Komulainen, P. (Pirjo), Krieger, J.E. (José), Kritchevsky, S.B. (Stephen), Kutalik, Z. (Zoltán), Kuusisto, J. (Johanna), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Launer, LJ, Leander, K. (Karin), Lemaitre, R.N. (Rozenn ), Lewis, CE, Liang, J.J., Alizadeh, BZ, Boezen, H.M. (Marike), Franke, L. (Lude), Navis, G. (Gerjan), Rots, M., Swertz, M. (Morris), Wolffenbuttel, B.H.R. (Bruce), Wijmenga, C. (Cisca), Liu, J. (Jianjun), Maagi, R., Manichaikul, A. (Ani), Meitinger, T. (Thomas), Metspalu, A. (Andres), Milaneschi, Y. (Yuri), Mohlke, K.L. (Karen), Mosley, T.H. (Thomas), Murray, A.D., Nalls, M.A. (Michael), Nang, EEK, Nelson, C.P. (Christopher), Nona, S., Norris, JM, Nwuba, C.V., O´Connell, J.R., Palmer, N.D. (Nicholette), Papanicolau, GJ, Pazoki, R. (Raha), Pedersen, N.L. (Nancy), Peters, A. (Annette), Peyser, P.A. (Patricia A.), Polasek, O. (Ozren), Porteous, D.J. (David J.), Poveda, A. (Andrés), Raitakari, OT, Rich, S.S. (Stephen), Risch, N., Robinson, JG, Rose, L.M. (Lynda), Rudan, I. (Igor), Schreiner, PJ, Scott, L.J. (Laura), Sidney, SS, Sims, M, Smith, J.A. (Jennifer A), Snieder, H. (Harold), Sofer, T., Starr, J.M. (John), Sternfeld, B., Strauch, K. (Konstantin), Tang, H. (Hui), Taylor, K.D. (Kent), Tsai, M.Y. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), van der Ende, M.Y., Heemst, D. van, Voortman, R.G. (Trudy), Waldenberger, M. (Melanie), Wennberg, P. (Patrik), Wilson, G, Xiang, YB, Yao, J, Yu, C.Z., Yuan, JM, Zhao, W. (Wei), Zonderman, A.B. (Alan), Becker, D.M. (Diane), Boehnke, M. (Michael), Bowden, DW, Faire, U. (Ulf) de, Deary, I.J. (Ian), Elliott, P.M. (Perry), Esko, T. (Tõnu), Freedman, B.I. (Barry), Froguel, P. (Philippe), Gasparini, P. (Paolo), Gieger, C. (Christian), Kato, N, Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimaki, T, Magnusson, P.K. (Patrik), Oldenhinkel, A.J. (A.), Penninx, B.W.J.H. (Brenda), Samani, N.J. (Nilesh), Shu, X.-O. (Xiao-Ou), Harst, P. (Pim) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vollenweider, P. (Peter), Wagenknecht, L.E. (Lynne), Wang, Y. (Ying), Wareham, N.J. (Nick), Weir, D.R. (David), Wu, TC, Zheng, W. (Wei), Zhu, X. (Xiaofeng), Evans, MK, Franks, P.W. (Paul), Guonason, V. (Vilmundur), Hayward, C. (Caroline), Horta, BL, Kelly, TN, Liu, Y. (YongMei), North, K.E. (Kari), Pereira, AC, Ridker, P.M. (Paul), Tai, E.S. (Shyong), Dam, R.M. (Rob) van, Fox, E.R. (Ervin), Kardia, S.L.R. (Sharon), Liu, C.-T. (Ching-Ti), Mook-Kanamori, D.O. (Dennis), Province, M.A. (Mike), Redline, S. (Susan), Duijn, C.M., Rotter, J.I. (Jerome), Kooperberg, C.B., Gauderman, W.J. (W James), Psaty, B.M. (Bruce), Rice, K, Munroe, P. (Patricia), Fornage, M. (Myriam), Cupples, L.A. (Adrienne), Rotimi, CN, Morrison, A.C. (Alanna), Rao, D.C. (Dabeeru C.), Loos, R.J.F. (Ruth), Kilpeläinen, T.O. (Tuomas), Bentley, A.R. (Amy), Noordam, R., Sung, YJ, Schwander, K., Winkler, T.W. (Thomas), Jakupovic, H., Chasman, D.I. (Daniel), Manning, A., Ntalla, I. (Ioanna), Aschard, H. (Hugues), Brown, M.R., de Las Fuentes, L., Franceschini, N. (Nora), Guo, X. (Xiuqing), Vojinovic, D., Aslibekyan, S, Feitosa, M.F. (Mary Furlan), Kho, M., Musani, SK, Richard, M., Wang, H.M., Wang, Z. (Zhen), Bartz, TM, Bielak, L.F. (Lawrence F.), Campbell, A. (Archie), Dorajoo, R. (Rajkumar), Fisher, V., Hartwig, F.P., Horimoto, A., Li, C.W., Lohman, K. (Kurt), Marten, J, Sim, XL, Smith, A.V. (Davey), Tajuddin, S. M., Alver, M, Amini, M., Boissel, M., Chai, J.F., Chen, X. (Xishu), Divers, J, Evangelou, E. (Evangelos), Gao, C. (Cheng), Graff, M.J. (Maud J.L.), Harris, S.E. (Sarah), He, M. (Meian), Hsu, F.-C. (Fang-Chi), Jackson, A.U. (Anne), Zhao, J.H. (Jing Hua), Kraja, A. (Aldi), Kuhnel, B. (Brigitte), Laguzzi, F., Lyytikäinen, L.-P. (Leo-Pekka), Nolte, IM, Rauramaa, R. (Rainer), Riaz, M. (Muhammad), Robino, A. (Antonietta), Rueedi, R, Stringham, H.M. (Heather), Takeuchi, F, Most, P.J. (Peter) van der, Varga, T.V. (Tibor), Verweij, N. (Niek), Ware, EB, Wen, WQ, Li, X. Y., Yanek, L.R. (Lisa), Amin, N. (Najaf), Arnett, D.K. (Donna), Boerwinkle, E.A. (Eric), Brumat, M., Cade, B, Canouil, M., Chen, Y.D.I. (Yii-Der Ida), Concas, MP, Connell, J. (John), Mutsert, R. (Reneé) de, de Silva, H.J., de Vries, PS, Demirkan, A. (Ayşe), Ding, J. (Jingzhong), Eaton, CB, Faul, J.D. (Jessica), Friedlander, Y. (Yechiel), Gabriel, K.P., Ghanbari, M., Giulianini, F. (Franco), Gu, C.C., Gu, DF, Harris, T.B. (Tamara), He, J. (Jing), Heikkinen, S., Heng, C.K. (Chew-Kiat), Hunt, S.C. (Steven), Ikram, M.A. (Arfan), Jonas, J.B., Koh, WP, Komulainen, P. (Pirjo), Krieger, J.E. (José), Kritchevsky, S.B. (Stephen), Kutalik, Z. (Zoltán), Kuusisto, J. (Johanna), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Launer, LJ, Leander, K. (Karin), Lemaitre, R.N. (Rozenn ), Lewis, CE, Liang, J.J., Alizadeh, BZ, Boezen, H.M. (Marike), Franke, L. (Lude), Navis, G. (Gerjan), Rots, M., Swertz, M. (Morris), Wolffenbuttel, B.H.R. (Bruce), Wijmenga, C. (Cisca), Liu, J. (Jianjun), Maagi, R., Manichaikul, A. (Ani), Meitinger, T. (Thomas), Metspalu, A. (Andres), Milaneschi, Y. (Yuri), Mohlke, K.L. (Karen), Mosley, T.H. (Thomas), Murray, A.D., Nalls, M.A. (Michael), Nang, EEK, Nelson, C.P. (Christopher), Nona, S., Norris, JM, Nwuba, C.V., O´Connell, J.R., Palmer, N.D. (Nicholette), Papanicolau, GJ, Pazoki, R. (Raha), Pedersen, N.L. (Nancy), Peters, A. (Annette), Peyser, P.A. (Patricia A.), Polasek, O. (Ozren), Porteous, D.J. (David J.), Poveda, A. (Andrés), Raitakari, OT, Rich, S.S. (Stephen), Risch, N., Robinson, JG, Rose, L.M. (Lynda), Rudan, I. (Igor), Schreiner, PJ, Scott, L.J. (Laura), Sidney, SS, Sims, M, Smith, J.A. (Jennifer A), Snieder, H. (Harold), Sofer, T., Starr, J.M. (John), Sternfeld, B., Strauch, K. (Konstantin), Tang, H. (Hui), Taylor, K.D. (Kent), Tsai, M.Y. (Michael), Tuomilehto, J. (Jaakko), Uitterlinden, A.G. (André), van der Ende, M.Y., Heemst, D. van, Voortman, R.G. (Trudy), Waldenberger, M. (Melanie), Wennberg, P. (Patrik), Wilson, G, Xiang, YB, Yao, J, Yu, C.Z., Yuan, JM, Zhao, W. (Wei), Zonderman, A.B. (Alan), Becker, D.M. (Diane), Boehnke, M. (Michael), Bowden, DW, Faire, U. (Ulf) de, Deary, I.J. (Ian), Elliott, P.M. (Perry), Esko, T. (Tõnu), Freedman, B.I. (Barry), Froguel, P. (Philippe), Gasparini, P. (Paolo), Gieger, C. (Christian), Kato, N, Laakso, M. (Markku), Lakka, T.A. (Timo), Lehtimaki, T, Magnusson, P.K. (Patrik), Oldenhinkel, A.J. (A.), Penninx, B.W.J.H. (Brenda), Samani, N.J. (Nilesh), Shu, X.-O. (Xiao-Ou), Harst, P. (Pim) van der, Vliet-Ostaptchouk, J.V. (Jana) van, Vollenweider, P. (Peter), Wagenknecht, L.E. (Lynne), Wang, Y. (Ying), Wareham, N.J. (Nick), Weir, D.R. (David), Wu, TC, Zheng, W. (Wei), Zhu, X. (Xiaofeng), Evans, MK, Franks, P.W. (Paul), Guonason, V. (Vilmundur), Hayward, C. (Caroline), Horta, BL, Kelly, TN, Liu, Y. (YongMei), North, K.E. (Kari), Pereira, AC, Ridker, P.M. (Paul), Tai, E.S. (Shyong), Dam, R.M. (Rob) van, Fox, E.R. (Ervin), Kardia, S.L.R. (Sharon), Liu, C.-T. (Ching-Ti), Mook-Kanamori, D.O. (Dennis), Province, M.A. (Mike), Redline, S. (Susan), Duijn, C.M., Rotter, J.I. (Jerome), Kooperberg, C.B., Gauderman, W.J. (W James), Psaty, B.M. (Bruce), Rice, K, Munroe, P. (Patricia), Fornage, M. (Myriam), Cupples, L.A. (Adrienne), Rotimi, CN, Morrison, A.C. (Alanna), Rao, D.C. (Dabeeru C.), and Loos, R.J.F. (Ruth)
Abstract: Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol, and triglyceride levels in up to 120,979 individuals of European, African, Asian, Hispanic, and Brazilian ancestry, with follow-up of suggestive associations in an additional 131,012 individuals. We find four loci, in/near CLASP1, LHX1, SNTA1, and CNTNAP2, that are associated with circulating lipid levels through interaction with physical activity; higher levels of physical activity enhance the HDL cholesterol-increasing effects of the CLASP1, LHX1, and SNTA1 loci and attenuate the LDL cholesterol-increasing effect of the CNTNAP2 l
Published: 2019
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4. Sex differences in renin-angiotensin-aldosterone system affect extracellular volume in healthy subjects

Author: Toering, T.J. (Tsjitske), Gant, C.M. (Christina), Visser, F.W. (Folkert), Graaf, A.M. (Anne Marijn) van der, Laverman, GD, Danser, A.H.J. (Jan), Faas, M.M. (Marijke), Navis, G. (Gerjan), Lely, A.T. (Titia), Toering, T.J. (Tsjitske), Gant, C.M. (Christina), Visser, F.W. (Folkert), Graaf, A.M. (Anne Marijn) van der, Laverman, GD, Danser, A.H.J. (Jan), Faas, M.M. (Marijke), Navis, G. (Gerjan), and Lely, A.T. (Titia)
Abstract: Several studies reported sex differences in aldosterone. It is unknown whether these differences are associated with differences in volume regulation. Therefore we studied both aldoster
Published: 2018
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5. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

Author: Teumer, A. (Alexander), Chaker, L. (Layal), Groeneweg, S. (Stefan), Li, Y. (Yong), Di Munno, C. (Celia), Barbieri, C. (Caterina), Schultheiss, U.T. (Ulla T.), Traglia, M. (Michela), Ahluwalia, T.S. (Tarunveer Singh), Akiyama, M. (Masato), Appel, E.V.R. (Emil Vincent R.), Arking, D.E. (Dan), Arnold, A.M. (Alice), Astrup, A. (Arne), Beekman, M. (Marian), Beilby, J.P. (John), Bekaert, S. (Sofie), Boerwinkle, E. (Eric), Brown, S.J. (Stephen), Buyzere, M. (Marc) de, Campbell, P.J. (Purdey J.), Ceresini, G. (Graziano), Cerqueira, C. (Charlotte), Cucca, F. (Francesco), Deary, I.J. (Ian), Deelen, J. (Joris), Eckardt, K.-U. (Kai-Uwe), Ekici, A.B. (Arif B.), Hagen, K. (Knut), Ferrrucci, L. (Luigi), Fiers, T. (Tom), Fiorillo, E. (Edoardo), Ford, I. (Ian), Fox, C.S. (Caroline), Fuchsberger, C. (Christian), Galesloot, T.E. (Tessel), Gieger, C. (Christian), Gögele, M. (Martin), Grandi, A. (Alessandro) de, Grarup, N. (Niels), Greiser, K.H. (Karin Halina), Haljas, K. (Kadri), Hansen, T. (Torben), Harris, S.E. (Sarah), Heemst, D. (Diana) van, Heijer, M. (Martin) den, Hicks, A.A. (Andrew A.), Hollander, W. (Wouter) den, Homuth, G. (Georg), Hui, J. (Jennie), Ikram, M.A. (Arfan), Ittermann, T. (Till), Jensen, R.A. (Richard A.), Jing, J. (Jiaojiao), Jukema, J.W. (Jan Wouter), Kajantie, E. (Eero), Kamatani, Y. (Yoichiro), Kasbohm, E. (Elisa), Kaufman, J.-M. (Jean-Marc), Kiemeney, L.A. (Lambertus A.), Kloppenburg, M. (Margreet), Kronenberg, F. (Florian), Kubo, M. (Michiaki), Lahti, J. (Jari), Lapauw, B. (Bruno), Li, S. (Shuo), Liewald, D.C.M. (David C. M.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Franke, L. (Lude), van der Harst, P. (Pim), Navis, G. (Gerjan), Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Lim, E.M. (Ee Mun), Linneberg, A. (Allan), Marina, M. (Michela), Mascalzoni, D. (Deborah), Matsuda, K. (Koichi), Medenwald, D. (Daniel), Meisinger, C. (Christa), Meulenbelt, I. (Ingrid), Meyer, T. (Thorsten), Meyer zu Schwabedissen, H.E. (Henriette E.), Mikolajczyk, R. (Rafael), Moed, H. (Heleen), Netea-Maier, R.T. (Romana), Nolte, I.M. (Ilja), Okada, Y. (Yukinori), Pala, M. (Mauro), Penninx, B.W.J.H., Pedersen, O. (Oluf), Petersmann, A. (Astrid), Porcu, E. (Eleonora), Postmus, D. (Douwe), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Ramos, Y.F.M. (Yolande F. M.), Rawal, R. (Rajesh), Redmond, P. (Paul), Richards, J.B. (Brent), Rietzschel, E.R. (Ernst), Rivadeneira Ramirez, F. (Fernando), Roef, G.L. (Greet), Rotter, J.I. (Jerome I.), Sala, C. (Cinzia), Schlessinger, D. (David), Selvin, E. (Elizabeth), Slagboom, P.E. (Eline), Soranzo, N. (Nicole), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Starr, J.M. (John), Stott, D.J. (David. J.), Taes, Y.E. (Youri), Taliun, D. (Daniel), Tanaka, T. (Toshiko), Thuesen, L. (Leif), Tiller, D. (Daniel), Toniolo, D. (Daniela), Uitterlinden, A.G. (Andre G.), Visser, W.E. (Edward), Walsh, J.P. (John P.), Wilson, S.G. (Scott), Wolffenbuttel, B.H.R. (Bruce), Yang, Q. (Qiong Fang), Zheng, H.-F. (Hou-Feng), Cappola, A.R. (Anne), Peeters, R.P. (Robin), Naitza, S. (Silvia), Völzke, H. (Henry), Sanna, S. (Serena), Köttgen, A. (Anna), Visser, T.J. (Theo), Medici, M. (Marco), Teumer, A. (Alexander), Chaker, L. (Layal), Groeneweg, S. (Stefan), Li, Y. (Yong), Di Munno, C. (Celia), Barbieri, C. (Caterina), Schultheiss, U.T. (Ulla T.), Traglia, M. (Michela), Ahluwalia, T.S. (Tarunveer Singh), Akiyama, M. (Masato), Appel, E.V.R. (Emil Vincent R.), Arking, D.E. (Dan), Arnold, A.M. (Alice), Astrup, A. (Arne), Beekman, M. (Marian), Beilby, J.P. (John), Bekaert, S. (Sofie), Boerwinkle, E. (Eric), Brown, S.J. (Stephen), Buyzere, M. (Marc) de, Campbell, P.J. (Purdey J.), Ceresini, G. (Graziano), Cerqueira, C. (Charlotte), Cucca, F. (Francesco), Deary, I.J. (Ian), Deelen, J. (Joris), Eckardt, K.-U. (Kai-Uwe), Ekici, A.B. (Arif B.), Hagen, K. (Knut), Ferrrucci, L. (Luigi), Fiers, T. (Tom), Fiorillo, E. (Edoardo), Ford, I. (Ian), Fox, C.S. (Caroline), Fuchsberger, C. (Christian), Galesloot, T.E. (Tessel), Gieger, C. (Christian), Gögele, M. (Martin), Grandi, A. (Alessandro) de, Grarup, N. (Niels), Greiser, K.H. (Karin Halina), Haljas, K. (Kadri), Hansen, T. (Torben), Harris, S.E. (Sarah), Heemst, D. (Diana) van, Heijer, M. (Martin) den, Hicks, A.A. (Andrew A.), Hollander, W. (Wouter) den, Homuth, G. (Georg), Hui, J. (Jennie), Ikram, M.A. (Arfan), Ittermann, T. (Till), Jensen, R.A. (Richard A.), Jing, J. (Jiaojiao), Jukema, J.W. (Jan Wouter), Kajantie, E. (Eero), Kamatani, Y. (Yoichiro), Kasbohm, E. (Elisa), Kaufman, J.-M. (Jean-Marc), Kiemeney, L.A. (Lambertus A.), Kloppenburg, M. (Margreet), Kronenberg, F. (Florian), Kubo, M. (Michiaki), Lahti, J. (Jari), Lapauw, B. (Bruno), Li, S. (Shuo), Liewald, D.C.M. (David C. M.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Franke, L. (Lude), van der Harst, P. (Pim), Navis, G. (Gerjan), Rots, M.G. (M.), Snieder, H. (Harold), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Lim, E.M. (Ee Mun), Linneberg, A. (Allan), Marina, M. (Michela), Mascalzoni, D. (Deborah), Matsuda, K. (Koichi), Medenwald, D. (Daniel), Meisinger, C. (Christa), Meulenbelt, I. (Ingrid), Meyer, T. (Thorsten), Meyer zu Schwabedissen, H.E. (Henriette E.), Mikolajczyk, R. (Rafael), Moed, H. (Heleen), Netea-Maier, R.T. (Romana), Nolte, I.M. (Ilja), Okada, Y. (Yukinori), Pala, M. (Mauro), Penninx, B.W.J.H., Pedersen, O. (Oluf), Petersmann, A. (Astrid), Porcu, E. (Eleonora), Postmus, D. (Douwe), Pramstaller, P.P. (Peter Paul), Psaty, B.M. (Bruce), Ramos, Y.F.M. (Yolande F. M.), Rawal, R. (Rajesh), Redmond, P. (Paul), Richards, J.B. (Brent), Rietzschel, E.R. (Ernst), Rivadeneira Ramirez, F. (Fernando), Roef, G.L. (Greet), Rotter, J.I. (Jerome I.), Sala, C. (Cinzia), Schlessinger, D. (David), Selvin, E. (Elizabeth), Slagboom, P.E. (Eline), Soranzo, N. (Nicole), Sørensen, T.I.A. (Thorkild), Spector, T.D. (Timothy), Starr, J.M. (John), Stott, D.J. (David. J.), Taes, Y.E. (Youri), Taliun, D. (Daniel), Tanaka, T. (Toshiko), Thuesen, L. (Leif), Tiller, D. (Daniel), Toniolo, D. (Daniela), Uitterlinden, A.G. (Andre G.), Visser, W.E. (Edward), Walsh, J.P. (John P.), Wilson, S.G. (Scott), Wolffenbuttel, B.H.R. (Bruce), Yang, Q. (Qiong Fang), Zheng, H.-F. (Hou-Feng), Cappola, A.R. (Anne), Peeters, R.P. (Robin), Naitza, S. (Silvia), Völzke, H. (Henry), Sanna, S. (Serena), Köttgen, A. (Anna), Visser, T.J. (Theo), and Medici, M. (Marco)
Abstract: Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves’ disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets.
Published: 2018
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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. Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Author: Nolte, I. M. (Ilja M.), Munoz, M. L. (M. Loretto), Tragante, V. (Vinicius), Amare, A. T. (Azmeraw T.), Jansen, R. (Rick), Vaez, A. (Ahmad), von der Heyde, B. (Benedikt), Avery, C. L. (Christy L.), Bis, J. C. (Joshua C.), Dierckx, B. (Bram), van Dongen, J. (Jenny), Gogarten, S. M. (Stephanie M.), Goyette, P. (Philippe), Hernesniemi, J. (Jussi), Huikari, V. (Ville), Hwang, S.-J. (Shih-Jen), Jaju, D. (Deepali), Kerr, K. F. (Kathleen F.), Kluttig, A. (Alexander), Krijthe, B. P. (Bouwe P.), Kumar, J. (Jitender), van der Laan, S. W. (Sander W.), Lyytikäinen, L.-P. (Leo-Pekka), Maihofer, A. X. (Adam X.), Minassian, A. (Arpi), van der Most, P. J. (Peter J.), Mueller-Nurasyid, M. (Martina), Nivard, M. (Michel), Salvi, E. (Erika), Stewart, J. D. (James D.), Thayer, J. F. (Julian F.), Verweij, N. (Niek), Wong, A. (Andrew), Zabaneh, D. (Delilah), Zafarmand, M. H. (Mohammad H.), Abdellaoui, A. (Abdel), Albarwani, S. (Sulayma), Albert, C. (Christine), Alonso, A. (Alvaro), Ashar, F. (Foram), Auvinen, J. (Juha), Axelsson, T. (Tomas), Baker, D. G. (Dewleen G.), de Bakker, P. I. (Paul I. W.), Barcella, M. (Matteo), Bayoumi, R. (Riad), Bieringa, R. J. (Rob J.), Boomsma, D. (Dorret), Boucher, G. (Gabrielle), Britton, A. R. (Annie R.), Christophersen, I. E. (Ingrid E.), Dietrich, A. (Andrea), Ehret, G. B. (George B.), Ellinor, P. T. (Patrick T.), Eskola, M. (Markku), Felix, J. F. (Janine F.), Floras, J. S. (John S.), Franco, O. H. (Oscar H.), Friberg, P. (Peter), Gademan, M. G. (Maaike G. J.), Geyer, M. A. (Mark A.), Giedraitis, V. (Vilmantas), Hartman, C. A. (Catharina A.), Hemerich, D. (Daiane), Hofman, A. (Albert), Hottenga, J.-J. (Jouke-Jan), Huikuri, H. (Heikki), Hutri-Kähönen, N. (Nina), Jouven, X. (Xavier), Junttila, J. (Juhani), Juonala, M. (Markus), Kiviniemi, A. M. (Antti M.), Kors, J. A. (Jan A.), Kumari, M. (Meena), Kuznetsova, T. (Tatiana), Laurie, C. C. (Cathy C.), Lefrandt, J. D. (Joop D.), Li, Y. (Yong), Li, Y. (Yun), Liao, D. (Duanping), Limacher, M. C. (Marian C.), Lin, H. J. (Henry J.), Lindgren, C. M. (Cecilia M.), Lubitz, S. A. (Steven A.), Mahajan, A. (Anubha), McKnight, B. (Barbara), zu Schwabedissen, H. M. (Henriette Meyer), Milaneschi, Y. (Yuri), Mononen, N. (Nina), Morris, A. P. (Andrew P.), Nalls, M. A. (Mike A.), Navis, G. (Gerjan), Neijts, M. (Melanie), Nikus, K. (Kjell), North, K. E. (Kari E.), O'Connor, D. T. (Daniel T.), Ormel, J. (Johan), Perz, S. (Siegfried), Peters, A. (Annette), Psaty, B. M. (Bruce M.), Raitakari, O. T. (Olli T.), Risbrough, V. B. (Victoria B.), Sinner, M. F. (Moritz F.), Siscovick, D. (David), Smit, J. H. (Johannes H.), Smith, N. L. (Nicholas L.), Soliman, E. Z. (Elsayed Z.), Sotoodehnia, N. (Nona), Staessen, J. A. (Jan A.), Stein, P. K. (Phyllis K.), Stilp, A. M. (Adrienne M.), Stolarz-Skrzypek, K. (Katarzyna), Strauch, K. (Konstantin), Sundström, J. (Johan), Swenne, C. A. (Cees A.), Syvänen, A.-C. (Ann-Christine), Tardif, J.-C. (Jean-Claude), Taylor, K. D. (Kent D.), Teumer, A. (Alexander), Thornton, T. A. (Timothy A.), Tinker, L. E. (Lesley E.), Uitterlinden, A. G. (Andre G.), van Setten, J. (Jessica), Voss, A. (Andreas), Waldenberger, M. (Melanie), Wilhelmsen, K. C. (Kirk C.), Willemsen, G. (Gonneke), Wong, Q. (Quenna), Zhang, Z.-M. (Zhu-Ming), Zonderman, A. B. (Alan B.), Cusi, D. (Daniele), Evans, M. K. (Michele K.), Greiser, H. K. (Halina K.), van der Harst, P. (Pim), Hassan, M. (Mohammad), Ingelsson, E. (Erik), Järvelin, M.-R. (Marjo-Riitta), Kaab, S. (Stefan), Kähönen, M. (Mika), Kivimäki, M. (Mika), Kooperberg, C. (Charles), Kuh, D. (Diana), Lehtimäki, T. (Terho), Lind, L. (Lars), Nievergelt, C. M. (Caroline M.), O'Donnell, C. J. (Chris J.), Oldehinkel, A. J. (Albertine J.), Penninx, B. (Brenda), Reiner, A. P. (Alexander P.), Riese, H. (Harriette), van Roon, A. M. (Arie M.), Rioux, J. D. (John D.), Rotter, J. I. (Jerome I.), Sofer, T. (Tamar), Stricker, B. H. (Bruno H.), Tiemeier, H. (Henning), Vrijkotte, T. G. (Tanja G. M.), Asselbergs, F. W. (Folkert W.), Brundel, B. J. (Bianca J. J. M.), Heckbert, S. R. (Susan R.), Whitsel, E. A. (Eric A.), den Hoed, M. (Marcel), Snieder, H. (Harold), de Geus, E. J. (Eco J. C.), Nolte, I. M. (Ilja M.), Munoz, M. L. (M. Loretto), Tragante, V. (Vinicius), Amare, A. T. (Azmeraw T.), Jansen, R. (Rick), Vaez, A. (Ahmad), von der Heyde, B. (Benedikt), Avery, C. L. (Christy L.), Bis, J. C. (Joshua C.), Dierckx, B. (Bram), van Dongen, J. (Jenny), Gogarten, S. M. (Stephanie M.), Goyette, P. (Philippe), Hernesniemi, J. (Jussi), Huikari, V. (Ville), Hwang, S.-J. (Shih-Jen), Jaju, D. (Deepali), Kerr, K. F. (Kathleen F.), Kluttig, A. (Alexander), Krijthe, B. P. (Bouwe P.), Kumar, J. (Jitender), van der Laan, S. W. (Sander W.), Lyytikäinen, L.-P. (Leo-Pekka), Maihofer, A. X. (Adam X.), Minassian, A. (Arpi), van der Most, P. J. (Peter J.), Mueller-Nurasyid, M. (Martina), Nivard, M. (Michel), Salvi, E. (Erika), Stewart, J. D. (James D.), Thayer, J. F. (Julian F.), Verweij, N. (Niek), Wong, A. (Andrew), Zabaneh, D. (Delilah), Zafarmand, M. H. (Mohammad H.), Abdellaoui, A. (Abdel), Albarwani, S. (Sulayma), Albert, C. (Christine), Alonso, A. (Alvaro), Ashar, F. (Foram), Auvinen, J. (Juha), Axelsson, T. (Tomas), Baker, D. G. (Dewleen G.), de Bakker, P. I. (Paul I. W.), Barcella, M. (Matteo), Bayoumi, R. (Riad), Bieringa, R. J. (Rob J.), Boomsma, D. (Dorret), Boucher, G. (Gabrielle), Britton, A. R. (Annie R.), Christophersen, I. E. (Ingrid E.), Dietrich, A. (Andrea), Ehret, G. B. (George B.), Ellinor, P. T. (Patrick T.), Eskola, M. (Markku), Felix, J. F. (Janine F.), Floras, J. S. (John S.), Franco, O. H. (Oscar H.), Friberg, P. (Peter), Gademan, M. G. (Maaike G. J.), Geyer, M. A. (Mark A.), Giedraitis, V. (Vilmantas), Hartman, C. A. (Catharina A.), Hemerich, D. (Daiane), Hofman, A. (Albert), Hottenga, J.-J. (Jouke-Jan), Huikuri, H. (Heikki), Hutri-Kähönen, N. (Nina), Jouven, X. (Xavier), Junttila, J. (Juhani), Juonala, M. (Markus), Kiviniemi, A. M. (Antti M.), Kors, J. A. (Jan A.), Kumari, M. (Meena), Kuznetsova, T. (Tatiana), Laurie, C. C. (Cathy C.), Lefrandt, J. D. (Joop D.), Li, Y. (Yong), Li, Y. (Yun), Liao, D. (Duanping), Limacher, M. C. (Marian C.), Lin, H. J. (Henry J.), Lindgren, C. M. (Cecilia M.), Lubitz, S. A. (Steven A.), Mahajan, A. (Anubha), McKnight, B. (Barbara), zu Schwabedissen, H. M. (Henriette Meyer), Milaneschi, Y. (Yuri), Mononen, N. (Nina), Morris, A. P. (Andrew P.), Nalls, M. A. (Mike A.), Navis, G. (Gerjan), Neijts, M. (Melanie), Nikus, K. (Kjell), North, K. E. (Kari E.), O'Connor, D. T. (Daniel T.), Ormel, J. (Johan), Perz, S. (Siegfried), Peters, A. (Annette), Psaty, B. M. (Bruce M.), Raitakari, O. T. (Olli T.), Risbrough, V. B. (Victoria B.), Sinner, M. F. (Moritz F.), Siscovick, D. (David), Smit, J. H. (Johannes H.), Smith, N. L. (Nicholas L.), Soliman, E. Z. (Elsayed Z.), Sotoodehnia, N. (Nona), Staessen, J. A. (Jan A.), Stein, P. K. (Phyllis K.), Stilp, A. M. (Adrienne M.), Stolarz-Skrzypek, K. (Katarzyna), Strauch, K. (Konstantin), Sundström, J. (Johan), Swenne, C. A. (Cees A.), Syvänen, A.-C. (Ann-Christine), Tardif, J.-C. (Jean-Claude), Taylor, K. D. (Kent D.), Teumer, A. (Alexander), Thornton, T. A. (Timothy A.), Tinker, L. E. (Lesley E.), Uitterlinden, A. G. (Andre G.), van Setten, J. (Jessica), Voss, A. (Andreas), Waldenberger, M. (Melanie), Wilhelmsen, K. C. (Kirk C.), Willemsen, G. (Gonneke), Wong, Q. (Quenna), Zhang, Z.-M. (Zhu-Ming), Zonderman, A. B. (Alan B.), Cusi, D. (Daniele), Evans, M. K. (Michele K.), Greiser, H. K. (Halina K.), van der Harst, P. (Pim), Hassan, M. (Mohammad), Ingelsson, E. (Erik), Järvelin, M.-R. (Marjo-Riitta), Kaab, S. (Stefan), Kähönen, M. (Mika), Kivimäki, M. (Mika), Kooperberg, C. (Charles), Kuh, D. (Diana), Lehtimäki, T. (Terho), Lind, L. (Lars), Nievergelt, C. M. (Caroline M.), O'Donnell, C. J. (Chris J.), Oldehinkel, A. J. (Albertine J.), Penninx, B. (Brenda), Reiner, A. P. (Alexander P.), Riese, H. (Harriette), van Roon, A. M. (Arie M.), Rioux, J. D. (John D.), Rotter, J. I. (Jerome I.), Sofer, T. (Tamar), Stricker, B. H. (Bruno H.), Tiemeier, H. (Henning), Vrijkotte, T. G. (Tanja G. M.), Asselbergs, F. W. (Folkert W.), Brundel, B. J. (Bianca J. J. M.), Heckbert, S. R. (Susan R.), Whitsel, E. A. (Eric A.), den Hoed, M. (Marcel), Snieder, H. (Harold), and de Geus, E. J. (Eco J. C.)
Abstract: Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for three HRV traits in up to 53,174 individuals of European ancestry, we detect 17 genome-wide significant SNPs in eight loci. HRV SNPs tag non-synonymous SNPs (in NDUFA11 and KIAA1755), expression quantitative trait loci (eQTLs) (influencing GNG11, RGS6 and NEO1), or are located in genes preferentially expressed in the sinoatrial node (GNG11, RGS6 and HCN4). Genetic risk scores account for 0.9 to 2.6% of the HRV variance. Significant genetic correlation is found for HRV with heart rate (-0.74
Published: 2017

8. Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram

Author: Verweij, N. (Niek), Leach, I.M. (Irene Mateo), Isaacs, A.J. (Aaron), Arking, D.E. (Dan), Bis, J.C. (Joshua), Pers, T.H. (Tune), Berg, M.E. (Marten) van den, Lyytikäinen, L.-P. (Leo-Pekka), Barnett, P. (Phil), Wang, X. (Xinchen), Soliman, E.Z. (Elsayed Z.), Duijn, C.M. (Cornelia) van, Kähönen, M. (Mika), Van Veldhuisen, D.J. (Dirk J.), Kors, J.A. (Jan), Raitakari, O.T. (Olli T.), Silva Aldana, C.T. (Claudia), Lehtimäki, T. (Terho), Hillege, H.L. (Hans), Hirschhorn, J.N. (Joel), Boyer, L.A. (Laurie A.), Gilst, W.H. (Wiek) van, Alonso, A. (Alvaro), Sotoodehnia, N. (Nona), Eijgelsheim, M. (Mark), Boer, R.A. (Rudolf) de, Bakker, P.I.W. (Paul) de, Franke, L. (Lude), Harst, P. (Pim) van der, Klauw, M. (Melanie van der), Navis, G. (Gerjan), Ormel, H. (Hans), Postma, D.S. (Dirkje), Rosmalen, J.G.M. (Judith), Slaets, J.P.J. (Joris), Stolk, R.P., Wolffenbuttel, B.H.R. (Bruce H. R.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Bruinenberg, M. (M.), Festen, N. (Noortje), Snieder, H. (Harold), Wijmenga, C. (Cisca), Verweij, N. (Niek), Leach, I.M. (Irene Mateo), Isaacs, A.J. (Aaron), Arking, D.E. (Dan), Bis, J.C. (Joshua), Pers, T.H. (Tune), Berg, M.E. (Marten) van den, Lyytikäinen, L.-P. (Leo-Pekka), Barnett, P. (Phil), Wang, X. (Xinchen), Soliman, E.Z. (Elsayed Z.), Duijn, C.M. (Cornelia) van, Kähönen, M. (Mika), Van Veldhuisen, D.J. (Dirk J.), Kors, J.A. (Jan), Raitakari, O.T. (Olli T.), Silva Aldana, C.T. (Claudia), Lehtimäki, T. (Terho), Hillege, H.L. (Hans), Hirschhorn, J.N. (Joel), Boyer, L.A. (Laurie A.), Gilst, W.H. (Wiek) van, Alonso, A. (Alvaro), Sotoodehnia, N. (Nona), Eijgelsheim, M. (Mark), Boer, R.A. (Rudolf) de, Bakker, P.I.W. (Paul) de, Franke, L. (Lude), Harst, P. (Pim) van der, Klauw, M. (Melanie van der), Navis, G. (Gerjan), Ormel, H. (Hans), Postma, D.S. (Dirkje), Rosmalen, J.G.M. (Judith), Slaets, J.P.J. (Joris), Stolk, R.P., Wolffenbuttel, B.H.R. (Bruce H. R.), Alizadeh, B.Z. (Behrooz), Boezen, H.M. (Marike), Bruinenberg, M. (M.), Festen, N. (Noortje), Snieder, H. (Harold), and Wijmenga, C. (Cisca)
Abstract: The ST-segment and adjacent T-wave (ST-T wave) amplitudes of the electrocardiogram are quantitative characteristics of cardiac repolarization. Repolarization abnormalities have been linked to ventricular arrhythmias and sudden cardiac death. We performed the first genome-wide association meta-analysis of ST-T-wave amplitudes in up to 37 977 individuals identifying 71 robust genotype-phenotype associations clustered within 28 independent loci. Fifty-four genes were prioritized as candidates underlying the phenotypes, including genes with established roles in the cardiac repolarization phase (SCN5A/SCN10A, KCND3, KCNB1, NOS1AP and HEY2) and others with as yet undefined cardiac function. These associations may provide insights in the spatiotemporal contribution of genetic variation influencing cardiac repolarization and provide novel leads for future functional follow-up.
Published: 2016
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9. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Author: Arking, D.E. (Dan), Pulit, S.L. (Sara), Crotti, L. (Lia), Harst, P. (Pim) van der, Munroe, P. (Patricia), Koopmann, T.T. (Tamara), Sotoodehnia, N. (Nona), Rossin, E. (Elizabeth), Morley, M. (Michael), Wang, X. (Xinchen), Johnson, A.D. (Andrew), Lundby, A. (Alicia), Gudbjartsson, D.F. (Daniel), Noseworthy, P.A. (Peter), Eijgelsheim, M. (Mark), Bradford, Y. (Yuki), Tarasov, K.V. (Kirill), Dörr, M. (Marcus), Müller-Nurasyid, M. (Martina), Lahtinen, A.M. (Annukka), Nolte, I.M. (Ilja), Smith, A.V. (Davey), Bis, J.C. (Joshua), Isaacs, A.J. (Aaron), Newhouse, S.J. (Stephen), Evans, D.S. (Daniel), Post, W.S. (Wendy S.), Waggott, D. (Daryl), Lyytikäinen, L.-P. (Leo-Pekka), Hicks, A.A. (Andrew), Eisele, L. (Lewin), Ellinghaus, D. (David), Hayward, C. (Caroline), Navarro, P. (Pau), Ulivi, S. (Shelia), Tanaka, T. (Toshiko), Tester, D.J. (David), Chatel, S. (Stéphanie), Gustafsson, S. (Stefan), Kumari, M. (Meena), Morris, R.W. (Richard), Naluai, A.T. (Asa), Padmanabhan, S. (Sandosh), Kluttig, A. (Alexander), Strohmer, B. (Bernhard), Panayiotou, A.G. (Andrie), Torres, M. (Maria), Knoflach, M. (Michael), Hubacek, J.A. (Jaroslav A.), Slowikowski, K. (Kamil), Raychaudhuri, S. (Soumya), Kumar, R.D. (Runjun), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Shuldiner, A.R. (Alan), Alonso, A. (Alvaro), Bader, J.S. (Joel), Ehret, G.B. (Georg), Huang, H. (Hailiang), Kao, W.H.L. (Wen), Strait, J.B. (James), Macfarlane, P.W. (Peter), Brown, M.J. (Morris), Caulfield, M. (Mark), Samani, N.J. (Nilesh), Kronenberg, F. (Florian), Willeit, J. (Johann), Smith, J.G. (J. Gustav), Greiser, K.H. (Karin Halina), Zu Schwabedissen, H.M. (Henriette Meyer), Werdan, K. (Karl), Carella, C. (Cintia), Zelante, L. (Leopoldo), Heckbert, S.R. (Susan), Psaty, B.M. (Bruce), Rotter, J.I. (Jerome), Kolcic, I. (Ivana), Polasek, O. (Ozren), Wright, A.F. (Alan), Griffin, M. (Maura), Daly, M.J. (Mark), Arnar, D.O. (David), Hólm, H. (Hilma), Thorsteinsdottir, U. (Unnur), Denny, J.C. (Joshua), Roden, D.M. (Dan), Zuvich, R.L. (Rebecca), Emilsson, V. (Valur), Plump, A.S. (Andrew), Larson, M.G. (Martin), O'Donnell, C.J. (Christopher), Yin, X. (Xiaoyan), Bobbo, M. (Marco), Adamo, P. (Pio) d', Iorio, A. (Annamaria), Sinagra, G. (Gianfranco), Carracedo, A. (Angel), Cummings, S.R. (Steven), Nalls, M.A. (Michael), Jula, A. (Antti), Kontula, K.K. (Kimmo), Marjamaa, A. (Annukka), Oikarinen, L. (Lasse), Perola, M. (Markus), Porthan, K. (Kimmo), Erbel, R. (Raimund), Hoffmann, P. (Per), Jöckel, K.-H. (Karl-Heinz), Kälsch, H. (Hagen), Nöthen, M.M. (Markus), Hoed, M. (Marcel) den, Loos, R.J.F. (Ruth), Thelle, D.S. (Dag), Gieger, C. (Christian), Meitinger, T. (Thomas), Perz, S. (Siegfried), Peters, A. (Annette), Prucha, H. (Hanna), Sinner, M.F. (Moritz), Waldenberger, M. (Melanie), Boer, R.A. (Rudolf) de, Franke, L. (Lude), Vleuten, P.A. (Pieter) van der, Beckmann, B.M. (Britt), Martens, E. (Eimo), Bardai, A. (Abdennasser), Hofman, N. (Nynke), Wilde, A.A.M. (Arthur), Behr, E.R. (Elijah), Dalageorgou, C. (Chrysoula), Giudicessi, J.R. (John), Medeiros-Domingo, A. (Argelia), Barc, J. (Julien), Kyndt, F. (Florence), Probst, V. (Vincent), Ghidoni, A. (Alice), Insolia, R. (Roberto), Hamilton, R.M. (Robert), Scherer, S.W. (Stephen), Brandimarto, J. (Jeffrey), Margulies, K. (Kenneth), Moravec, C.E. (Christine), Del Greco, F. (Fabiola), Fuchsberger, C. (Christian), O'Connell, J.R. (Jeffery), Lee, W.K. (Wai), Watt, G.C.M. (Graham), Campbell, H. (Harry), Wild, S.H. (Sarah), El Mokhtari, N.E. (Nour), Frey, N. (Norbert), Asselbergs, F.W. (Folkert), Leach, I.M. (Irene Mateo), Navis, G. (Gerjan), Berg, M.P. (Maarten) van den, Veldhuisen, D.J. (Dirk) van, Kellis, M. (Manolis), Krijthe, B.P. (Bouwe), Franco, O.H. (Oscar), Hofman, A. (Albert), Kors, J.A. (Jan), Uitterlinden, A.G. (André), Witteman, J.C.M. (Jacqueline), Kedenko, L. (Lyudmyla), Lamina, C. (Claudia), Oostra, B.A. (Ben), Abecasis, G.R. (Gonçalo), Lakatta, E. (Edward), Mulas, A. (Antonella), Orrù, M. (Marco), Schlessinger, D. (David), Uda, M. (Manuela), Markus, M.R.P. (Marcello R. P.), Völker, U. (Uwe), Snieder, H. (Harold), Spector, T.D. (Timothy), Ärnlöv, J. (Johan), Lind, L. (Lars), Sundstrom, J. (Johan), Syvanen, A.C., Kivimaki, M. (Mika), Kähönen, M. (Mika), Mononen, K. (Kari), Raitakari, O. (Olli), Viikari, J. (Jorma), Adamkova, V. (Vera), Kiechl, S. (Stefan), Brion, M.-J. (Maria), Nicolaides, A.N. (Andrew), Paulweber, B. (Bernhard), Haerting, J. (Johannes), Dominiczak, A. (Anna), Nyberg, F. (Fredrik), Whincup, P.H. (Peter), Hingorani, A. (Aroon), Schott, J.-J. (Jean-Jacques), Bezzina, C.R. (Connie), Ingelsson, E. (Erik), Ferrucci, L. (Luigi), Gasparini, P. (Paolo), Wilson, J.F. (James), Rudan, I. (Igor), Franke, A. (Andre), Mühleisen, T.W. (Thomas), Pramstaller, P.P. (Peter Paul), Lehtimäki, T. (Terho), Paterson, A.D. (Andrew), Parsa, A. (Afshin), Liu, Y. (YongMei), Duijn, C.M. (Cornelia) van, Siscovick, D.S. (David), Gudnason, V. (Vilmundur), Jamshidi, Y. (Yalda), Salomaa, V. (Veikko), Felix, S.B. (Stephan), Sanna, S. (Serena), Ritchie, M.D. (Marylyn), Stricker, B.H.Ch. (Bruno), Zwart, J-A. (John-Anker), Boyer, L.A. (Laurie), Cappola, T.P. (Thomas), Olsen, J.V. (Jesper), Lage, P. (Pedro), Schwartz, P.J. (Peter), Kääb, S. (Stefan), Chakravarti, A. (Aravinda), Ackerman, M. (Margaret), Pfeufer, A. (Arne), Bakker, P.I.W. (Paul) de, Newton-Cheh, C. (Christopher), Arking, D.E. (Dan), Pulit, S.L. (Sara), Crotti, L. (Lia), Harst, P. (Pim) van der, Munroe, P. (Patricia), Koopmann, T.T. (Tamara), Sotoodehnia, N. (Nona), Rossin, E. (Elizabeth), Morley, M. (Michael), Wang, X. (Xinchen), Johnson, A.D. (Andrew), Lundby, A. (Alicia), Gudbjartsson, D.F. (Daniel), Noseworthy, P.A. (Peter), Eijgelsheim, M. (Mark), Bradford, Y. (Yuki), Tarasov, K.V. (Kirill), Dörr, M. (Marcus), Müller-Nurasyid, M. (Martina), Lahtinen, A.M. (Annukka), Nolte, I.M. (Ilja), Smith, A.V. (Davey), Bis, J.C. (Joshua), Isaacs, A.J. (Aaron), Newhouse, S.J. (Stephen), Evans, D.S. (Daniel), Post, W.S. (Wendy S.), Waggott, D. (Daryl), Lyytikäinen, L.-P. (Leo-Pekka), Hicks, A.A. (Andrew), Eisele, L. (Lewin), Ellinghaus, D. (David), Hayward, C. (Caroline), Navarro, P. (Pau), Ulivi, S. (Shelia), Tanaka, T. (Toshiko), Tester, D.J. (David), Chatel, S. (Stéphanie), Gustafsson, S. (Stefan), Kumari, M. (Meena), Morris, R.W. (Richard), Naluai, A.T. (Asa), Padmanabhan, S. (Sandosh), Kluttig, A. (Alexander), Strohmer, B. (Bernhard), Panayiotou, A.G. (Andrie), Torres, M. (Maria), Knoflach, M. (Michael), Hubacek, J.A. (Jaroslav A.), Slowikowski, K. (Kamil), Raychaudhuri, S. (Soumya), Kumar, R.D. (Runjun), Harris, T.B. (Tamara), Launer, L.J. (Lenore), Shuldiner, A.R. (Alan), Alonso, A. (Alvaro), Bader, J.S. (Joel), Ehret, G.B. (Georg), Huang, H. (Hailiang), Kao, W.H.L. (Wen), Strait, J.B. (James), Macfarlane, P.W. (Peter), Brown, M.J. (Morris), Caulfield, M. (Mark), Samani, N.J. (Nilesh), Kronenberg, F. (Florian), Willeit, J. (Johann), Smith, J.G. (J. Gustav), Greiser, K.H. (Karin Halina), Zu Schwabedissen, H.M. (Henriette Meyer), Werdan, K. (Karl), Carella, C. (Cintia), Zelante, L. (Leopoldo), Heckbert, S.R. (Susan), Psaty, B.M. (Bruce), Rotter, J.I. (Jerome), Kolcic, I. (Ivana), Polasek, O. (Ozren), Wright, A.F. (Alan), Griffin, M. (Maura), Daly, M.J. (Mark), Arnar, D.O. (David), Hólm, H. (Hilma), Thorsteinsdottir, U. (Unnur), Denny, J.C. (Joshua), Roden, D.M. (Dan), Zuvich, R.L. (Rebecca), Emilsson, V. (Valur), Plump, A.S. (Andrew), Larson, M.G. (Martin), O'Donnell, C.J. (Christopher), Yin, X. (Xiaoyan), Bobbo, M. (Marco), Adamo, P. (Pio) d', Iorio, A. (Annamaria), Sinagra, G. (Gianfranco), Carracedo, A. (Angel), Cummings, S.R. (Steven), Nalls, M.A. (Michael), Jula, A. (Antti), Kontula, K.K. (Kimmo), Marjamaa, A. (Annukka), Oikarinen, L. (Lasse), Perola, M. (Markus), Porthan, K. (Kimmo), Erbel, R. (Raimund), Hoffmann, P. (Per), Jöckel, K.-H. (Karl-Heinz), Kälsch, H. (Hagen), Nöthen, M.M. (Markus), Hoed, M. (Marcel) den, Loos, R.J.F. (Ruth), Thelle, D.S. (Dag), Gieger, C. (Christian), Meitinger, T. (Thomas), Perz, S. (Siegfried), Peters, A. (Annette), Prucha, H. (Hanna), Sinner, M.F. (Moritz), Waldenberger, M. (Melanie), Boer, R.A. (Rudolf) de, Franke, L. (Lude), Vleuten, P.A. (Pieter) van der, Beckmann, B.M. (Britt), Martens, E. (Eimo), Bardai, A. (Abdennasser), Hofman, N. (Nynke), Wilde, A.A.M. (Arthur), Behr, E.R. (Elijah), Dalageorgou, C. (Chrysoula), Giudicessi, J.R. (John), Medeiros-Domingo, A. (Argelia), Barc, J. (Julien), Kyndt, F. (Florence), Probst, V. (Vincent), Ghidoni, A. (Alice), Insolia, R. (Roberto), Hamilton, R.M. (Robert), Scherer, S.W. (Stephen), Brandimarto, J. (Jeffrey), Margulies, K. (Kenneth), Moravec, C.E. (Christine), Del Greco, F. (Fabiola), Fuchsberger, C. (Christian), O'Connell, J.R. (Jeffery), Lee, W.K. (Wai), Watt, G.C.M. (Graham), Campbell, H. (Harry), Wild, S.H. (Sarah), El Mokhtari, N.E. (Nour), Frey, N. (Norbert), Asselbergs, F.W. (Folkert), Leach, I.M. (Irene Mateo), Navis, G. (Gerjan), Berg, M.P. (Maarten) van den, Veldhuisen, D.J. (Dirk) van, Kellis, M. (Manolis), Krijthe, B.P. (Bouwe), Franco, O.H. (Oscar), Hofman, A. (Albert), Kors, J.A. (Jan), Uitterlinden, A.G. (André), Witteman, J.C.M. (Jacqueline), Kedenko, L. (Lyudmyla), Lamina, C. (Claudia), Oostra, B.A. (Ben), Abecasis, G.R. (Gonçalo), Lakatta, E. (Edward), Mulas, A. (Antonella), Orrù, M. (Marco), Schlessinger, D. (David), Uda, M. (Manuela), Markus, M.R.P. (Marcello R. P.), Völker, U. (Uwe), Snieder, H. (Harold), Spector, T.D. (Timothy), Ärnlöv, J. (Johan), Lind, L. (Lars), Sundstrom, J. (Johan), Syvanen, A.C., Kivimaki, M. (Mika), Kähönen, M. (Mika), Mononen, K. (Kari), Raitakari, O. (Olli), Viikari, J. (Jorma), Adamkova, V. (Vera), Kiechl, S. (Stefan), Brion, M.-J. (Maria), Nicolaides, A.N. (Andrew), Paulweber, B. (Bernhard), Haerting, J. (Johannes), Dominiczak, A. (Anna), Nyberg, F. (Fredrik), Whincup, P.H. (Peter), Hingorani, A. (Aroon), Schott, J.-J. (Jean-Jacques), Bezzina, C.R. (Connie), Ingelsson, E. (Erik), Ferrucci, L. (Luigi), Gasparini, P. (Paolo), Wilson, J.F. (James), Rudan, I. (Igor), Franke, A. (Andre), Mühleisen, T.W. (Thomas), Pramstaller, P.P. (Peter Paul), Lehtimäki, T. (Terho), Paterson, A.D. (Andrew), Parsa, A. (Afshin), Liu, Y. (YongMei), Duijn, C.M. (Cornelia) van, Siscovick, D.S. (David), Gudnason, V. (Vilmundur), Jamshidi, Y. (Yalda), Salomaa, V. (Veikko), Felix, S.B. (Stephan), Sanna, S. (Serena), Ritchie, M.D. (Marylyn), Stricker, B.H.Ch. (Bruno), Zwart, J-A. (John-Anker), Boyer, L.A. (Laurie), Cappola, T.P. (Thomas), Olsen, J.V. (Jesper), Lage, P. (Pedro), Schwartz, P.J. (Peter), Kääb, S. (Stefan), Chakravarti, A. (Aravinda), Ackerman, M. (Margaret), Pfeufer, A. (Arne), Bakker, P.I.W. (Paul) de, and Newton-Cheh, C. (Christopher)
Abstract: The QT interval, an electrocardiographic measure reflecting myocardial repolarization, is a heritable trait. QT prolongation is a risk factor for ventricular arrhythmias and sudden cardiac death (SCD) and could indicate the presence of the potentially lethal mendelian long-QT syndrome (LQTS). Using a genome-wide association and replication study in up to 100,000 individuals, we identified 35 common variant loci associated with QT interval that collectively explain ∼ 8-10% of QT-interval variation and highlight the importance of calcium regulation in myocardial repolarization. Rare variant analysis of 6 new QT interval-associated loci in 298 unrelated probands with LQTS identified coding variants not found in controls but of uncertain causality and therefore requiring validation. Several newly identified loci encode proteins that physically interact with other recognized repolarization proteins. Our integration of common variant association, expression and orthogonal protein-protein interaction screens provides new insights into cardiac electrophysiology and identifies new candidate genes for ventricular arrhythmias, LQTS and SCD.
Published: 2014
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10. Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, global BPgen, and ICBP consortia

Author: Simino, J. (Jeannette), Shi, G. (Gang), Bis, J.C. (Joshua), Chasman, D.I. (Daniel), Ehret, G.B. (Georg), Gu, X. (Xiangjun), Guo, X. (Xiuqing), Hwang, S.J., Sijbrands, E.J.G. (Eric), Smith, A.V. (Davey), Verwoert, G.C. (Germaine), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Chen, P. (Ping), Cheng, C-Y. (Ching-Yu), Corre, T. (Tanguy), Boer, R.A. (Rudolf) de, Goel, A. (Anuj), Johnson, T. (Toby), Khor, C.C., Lluís-Ganella, C. (Carla), Luan, J., Lyytikäinen, L.-P. (Leo-Pekka), Nolte, I.M. (Ilja), Sim, X. (Xueling), Sõber, S. (Siim), Most, P.J. (Peter) van der, Verweij, N. (Niek), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Boerwinkle, E.A. (Eric), Bouchard, C. (Claude), Dehghan, A. (Abbas), Eiriksdottir, G. (Gudny), Elosua, R. (Roberto), Franco, O.H. (Oscar), Gieger, C. (Christian), Harris, T.B. (Tamara), Hercberg, S. (Serge), Hofman, A. (Albert), James, A.L. (Alan), Johnson, A.D. (Andrew), Kähönen, M. (Mika), Khaw, K-T. (Kay-Tee), Kutalik, Z. (Zoltán), Larson, M.G. (Martin), Launer, L.J. (Lenore), Li, G. (Guo), Liu, J. (Jianjun), Liu, K. (Kiang), Morrison, A.C. (Alanna), Navis, G. (Gerjan), Ong, R.T.H. (Rick Twee-Hee), Papanicolau, G.J. (George), Penninx, B.W.J.H. (Brenda), Psaty, B.M. (Bruce), Raffel, L.J. (Leslie), Raitakari, O. (Olli), Rice, K. (Kenneth), Rivadeneira Ramirez, F. (Fernando), Rose, L.M. (Lynda), Sanna, S. (Serena), Scott, R.A. (Robert), Siscovick, D.S. (David), Stolk, R.P. (Ronald), Uitterlinden, A.G. (André), Vaidya, D. (Dhananjay), Klauw, M.M. (Melanie) van der, Vasan, R.S. (Ramachandran Srini), Vithana, E.N. (Eranga), Völker, U. (Uwe), Völzke, H. (Henry), Watkins, H. (Hugh), Young, T.L. (Terri), Aung, T. (Tin), Bochud, M. (Murielle), Farrall, M. (Martin), Hartman, C.A. (Catharina), Laan, M. (Maris), Lakatta, E. (Edward), Lehtimäki, T. (Terho), Loos, R.J.F. (Ruth), Lucas, G. (Gavin), Meneton, P. (Pierre), Palmer, C. (Cameron), Rettig, R. (Rainer), Snieder, H. (Harold), Tai, E.S. (Shyong), Teo, Y.-Y. (Yik-Ying), Harst, P. (Pim) van der, Wareham, N.J. (Nick), Wijmenga, C. (Cisca), Wong, T.Y. (Tien Yin), Fornage, M. (Myriam), Gudnason, V. (Vilmundur), Levy, D. (Daniel), Palmas, W. (Walter), Ridker, P.M. (Paul), Rotter, J.I. (Jerome), Duijn, C.M. (Cornelia) van, Witteman, J.C.M. (Jacqueline), Chakravarti, A. (Aravinda), Rao, D.C. (Dabeeru C.), Simino, J. (Jeannette), Shi, G. (Gang), Bis, J.C. (Joshua), Chasman, D.I. (Daniel), Ehret, G.B. (Georg), Gu, X. (Xiangjun), Guo, X. (Xiuqing), Hwang, S.J., Sijbrands, E.J.G. (Eric), Smith, A.V. (Davey), Verwoert, G.C. (Germaine), Bragg-Gresham, J.L. (Jennifer L.), Cadby, G. (Gemma), Chen, P. (Ping), Cheng, C-Y. (Ching-Yu), Corre, T. (Tanguy), Boer, R.A. (Rudolf) de, Goel, A. (Anuj), Johnson, T. (Toby), Khor, C.C., Lluís-Ganella, C. (Carla), Luan, J., Lyytikäinen, L.-P. (Leo-Pekka), Nolte, I.M. (Ilja), Sim, X. (Xueling), Sõber, S. (Siim), Most, P.J. (Peter) van der, Verweij, N. (Niek), Zhao, J.H. (Jing Hua), Amin, N. (Najaf), Boerwinkle, E.A. (Eric), Bouchard, C. (Claude), Dehghan, A. (Abbas), Eiriksdottir, G. (Gudny), Elosua, R. (Roberto), Franco, O.H. (Oscar), Gieger, C. (Christian), Harris, T.B. (Tamara), Hercberg, S. (Serge), Hofman, A. (Albert), James, A.L. (Alan), Johnson, A.D. (Andrew), Kähönen, M. (Mika), Khaw, K-T. (Kay-Tee), Kutalik, Z. (Zoltán), Larson, M.G. (Martin), Launer, L.J. (Lenore), Li, G. (Guo), Liu, J. (Jianjun), Liu, K. (Kiang), Morrison, A.C. (Alanna), Navis, G. (Gerjan), Ong, R.T.H. (Rick Twee-Hee), Papanicolau, G.J. (George), Penninx, B.W.J.H. (Brenda), Psaty, B.M. (Bruce), Raffel, L.J. (Leslie), Raitakari, O. (Olli), Rice, K. (Kenneth), Rivadeneira Ramirez, F. (Fernando), Rose, L.M. (Lynda), Sanna, S. (Serena), Scott, R.A. (Robert), Siscovick, D.S. (David), Stolk, R.P. (Ronald), Uitterlinden, A.G. (André), Vaidya, D. (Dhananjay), Klauw, M.M. (Melanie) van der, Vasan, R.S. (Ramachandran Srini), Vithana, E.N. (Eranga), Völker, U. (Uwe), Völzke, H. (Henry), Watkins, H. (Hugh), Young, T.L. (Terri), Aung, T. (Tin), Bochud, M. (Murielle), Farrall, M. (Martin), Hartman, C.A. (Catharina), Laan, M. (Maris), Lakatta, E. (Edward), Lehtimäki, T. (Terho), Loos, R.J.F. (Ruth), Lucas, G. (Gavin), Meneton, P. (Pierre), Palmer, C. (Cameron), Rettig, R. (Rainer), Snieder, H. (Harold), Tai, E.S. (Shyong), Teo, Y.-Y. (Yik-Ying), Harst, P. (Pim) van der, Wareham, N.J. (Nick), Wijmenga, C. (Cisca), Wong, T.Y. (Tien Yin), Fornage, M. (Myriam), Gudnason, V. (Vilmundur), Levy, D. (Daniel), Palmas, W. (Walter), Ridker, P.M. (Paul), Rotter, J.I. (Jerome), Duijn, C.M. (Cornelia) van, Witteman, J.C.M. (Jacqueline), Chakravarti, A. (Aravinda), and Rao, D.C. (Dabeeru C.)
Abstract: Although age-dependent effects on blood pressure (BP) have been reported, they have not been systematically investigated in large-scale genome-wide association studies (GWASs). We leveraged the infrastructure of three well-established consortia (CHARGE, GBPgen, and ICBP) and a nonstandard approach (age stratification and metaregression) to conduct a genome-wide search of common variants with age-dependent effects on systolic (SBP), diastolic (DBP), mean arterial (MAP), and pulse (PP) pressure. In a two-staged design using 99,241 individuals of European ancestry, we identified 20 genome-wide significant (p≤ 5 10) loci by using joint tests of the SNP main effect and SNP-age interaction. Nine of the significant loci demonstrated nominal evidence of age-dependent effects on BP by tests of the interactions alone. Index SNPs in the EHBP1L1 (DBP and MAP), CASZ1 (SBP and MAP), and GOSR2 (PP) loci exhibited the largest age interactions, with opposite directions of effect in the young versus the old. The changes in the genetic effects over time were small but nonnegligible (up to 1.58 mm Hg
Published: 2014
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11. Susceptibility to chronic mucus hypersecretion, a genome wide association study

Author: Dijkstra, A.E. (Akkelies), Smolonska, J. (Joanna), Berge, M. (Maarten) van den, Wijmenga, C. (Ciska), Zanen, P. (Pieter), Luinge, M.A. (Marjan), Platteel, I. (Inge), Lammers, J.-W.J. (Jan-Willem), Dahlback, M. (Magnus), Tosh, K. (Kerrie), Hiemstra, P.S. (Pieter), Sterk, P.J. (Peter), Spira, M.E. (Micha), Vestbo, J. (Jorgen), Nordestgaard, B.G. (Børge), Benn, M. (Marianne), Nielsen, S.F. (Sune), Dahl, M. (Morten), Verschuren, W.M.M. (W. M. Monique), Picavet, H.S.J. (Susan), Smit, H.A. (Henriëtte), Owsijewitsch, M. (Michael), Kauczor, H.U. (Hans), Koning, H.J. (Harry) de, Nizankowska-Mogilnicka, E. (Eva), Mejza, F. (Filip), Nastalek, P. (Pawel), Diemen, C.C. (Cleo) van, Cho, M.H. (Michael), Silverman, E.K. (Edwin), Crapo, R.O. (Robert), Beaty, T.H. (Terri), Lomas, D.J. (David John), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Bossé, Y. (Yohan), Obeidat, M. (Ma'en), Loth, D.W. (Daan), Lahousse, L. (Lies), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Stricker, B.H.Ch. (Bruno), Brusselle, G.G. (Guy), Duijn, C.M. (Cornelia) van, Brouwer, U. (Uilke), Koppelman, G.H. (Gerard), Vonk, J.M. (Judith), Nawijn, M.C. (Martijn), Groen, H.J.M. (Henk), Timens, W. (Wim), Boezen, H.M. (Marike), Postma, D.S. (Dirkje), Alizadeh, B.Z. (Behrooz), Boer, R.A. (Rudolf) de, Bruinenberg, M. (M.), Franke, L. (Lude), Harst, P. (Pim) van der, Hillege, H.L. (Hans), Klauw, M.M. (Melanie) van der, Navis, G. (Gerjan), Ormel, J. (Johan), Rosmalen, J.G.M. (Judith), Slaets, J.P.J. (Joris), Snieder, H. (Harold), Stolk, R.P. (Ronald), Wolffenbuttel, B. (Bhr), Dijkstra, A.E. (Akkelies), Smolonska, J. (Joanna), Berge, M. (Maarten) van den, Wijmenga, C. (Ciska), Zanen, P. (Pieter), Luinge, M.A. (Marjan), Platteel, I. (Inge), Lammers, J.-W.J. (Jan-Willem), Dahlback, M. (Magnus), Tosh, K. (Kerrie), Hiemstra, P.S. (Pieter), Sterk, P.J. (Peter), Spira, M.E. (Micha), Vestbo, J. (Jorgen), Nordestgaard, B.G. (Børge), Benn, M. (Marianne), Nielsen, S.F. (Sune), Dahl, M. (Morten), Verschuren, W.M.M. (W. M. Monique), Picavet, H.S.J. (Susan), Smit, H.A. (Henriëtte), Owsijewitsch, M. (Michael), Kauczor, H.U. (Hans), Koning, H.J. (Harry) de, Nizankowska-Mogilnicka, E. (Eva), Mejza, F. (Filip), Nastalek, P. (Pawel), Diemen, C.C. (Cleo) van, Cho, M.H. (Michael), Silverman, E.K. (Edwin), Crapo, R.O. (Robert), Beaty, T.H. (Terri), Lomas, D.J. (David John), Bakke, A.B. (Arnold B.), Gulsvik, A. (Amund), Bossé, Y. (Yohan), Obeidat, M. (Ma'en), Loth, D.W. (Daan), Lahousse, L. (Lies), Rivadeneira Ramirez, F. (Fernando), Uitterlinden, A.G. (André), Hofman, A. (Albert), Stricker, B.H.Ch. (Bruno), Brusselle, G.G. (Guy), Duijn, C.M. (Cornelia) van, Brouwer, U. (Uilke), Koppelman, G.H. (Gerard), Vonk, J.M. (Judith), Nawijn, M.C. (Martijn), Groen, H.J.M. (Henk), Timens, W. (Wim), Boezen, H.M. (Marike), Postma, D.S. (Dirkje), Alizadeh, B.Z. (Behrooz), Boer, R.A. (Rudolf) de, Bruinenberg, M. (M.), Franke, L. (Lude), Harst, P. (Pim) van der, Hillege, H.L. (Hans), Klauw, M.M. (Melanie) van der, Navis, G. (Gerjan), Ormel, J. (Johan), Rosmalen, J.G.M. (Judith), Slaets, J.P.J. (Joris), Snieder, H. (Harold), Stolk, R.P. (Ronald), and Wolffenbuttel, B. (Bhr)
Abstract: Background: Chronic mucus hypersecretion (CMH) is associated with an increased frequency of respiratory infections, excess lung function decline, and increased hospitalisation and mortality rates in the general population. It is associated with smoking, but it is unknown why only a minority of smokers develops CMH. A plausible explanation for this phenomenon is a predisposing genetic constitution. Therefore, we performed a genome wide association (GWA) study of CMH in Caucasian populations. Methods: GWA analysis was performed in the NELSON-study using the Illumina 610 array, followed by replication and meta-analysis in 11 additional cohorts. In total 2,704 subjects with, and 7,624 subjects without CMH were included, all current or former heavy smokers (≥20 pack-years). Additional studies were performed to test the functional relevance of the most significant single nucleotide polymorphism (SNP). Results: A strong association with CMH, consistent across all cohorts, was observed with rs6577641 (p = 4.25x10-6, OR = 1.17), located in intron 9 of the special AT-rich sequence-binding protein 1 locus (SATB1) on chromosome 3. The risk allele (G) was associated with higher mRNA expression of SATB1 (4.3x10 -9) in lung tissue. Presence of CMH was associated with increased SATB1 mRNA expression in bronchial biopsies from COPD patients. SATB1 expression was induced during differentiation of primary human bronchial epithelial cells in culture. Conclusions: Our findings, that SNP rs6577641 is associated with CMH in multiple cohorts and is a cis-eQTL for SATB1, together with our additional observation that SATB1 expression increases during epithelial differentiation provide suggestive evidence that SATB1 is a gene that affects CMH.
Published: 2014
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12. 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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13. 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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14. 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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15. 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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16. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

Author: Huang, J. (Jian), Sabater-Lleal, M. (Maria), Asselbergs, F.W. (Folkert), Tregouet, D.-A. (David-Alexandre), Shin, S.-Y., Ding, J. (Jingzhong), Baumert, J. (Jens), Oudot-Mellakh, T. (Tiphaine), Folkersen, L. (Lasse), Johnson, A.D. (Andrew), Smith, N.L. (Nicholas), Williams, S.M. (Scott), Ikram, M.A. (Arfan), Kleber, M.E. (Marcus), Becker, D.M. (Diane), Truong, V. (Vinh), Mychaleckyj, J.C. (Josyf), Tang, W. (Weihong), Yang, Q. (Qiong Fang), Sennblad, B. (Bengt), Moore, J.H. (Jason), Williams, F.M. (Frances), Dehghan, A. (Abbas), Silbernagel, G. (Günther), Schrijvers, E.M.C. (Elisabeth M. C.), Smith, S. (Sarah), Karakas, M. (Mahir), Tofler, G.H. (Geoffrey), Silveira, A. (Angela), Navis, G. (Gerjan), Lohman, K. (Kurt), Chen, M-H. (Ming-Huei), Peters, A. (Annette), Goel, A. (Anuj), Hopewell, J., Chambers, J.C. (John), Saleheen, D., Lundmark, P. (Per), Psaty, B.M. (Bruce), Strawbridge, R.J. (Rona), Boehm, B.O. (Bernhard), Carter, A.M. (Angela M.), Meisinger, C. (Christa), Peden, J. (John), Bis, J.C. (Joshua), McKnight, B. (Barbara), Öhrvik, J. (John), Taylor, K.D. (Kent), Franzosi, M., Seedorf, U. (Udo), Collins, R. (Rory), Franco-Cereceda, A. (Anders), Syvanen, A.C., Goodall, A.H. (Alison), Yanek, L.R. (Lisa), Cushman, M. (Mary Ann), Müller-Nurasyid, M. (Martina), Folsom, A.R. (Aaron), Basu, S. (Saonli), Aleksic, N. (Nena), Gilst, W.H. (Wiek) van, Kooner, J.S. (Jaspal), Hofman, A. (Albert), Danesh, J. (John), Clarke, R. (Robert), Meigs, J.B. (James), Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Klopp, N. (Norman), Harris, T.B. (Tamara), Winkelmann, B., Grant, P.J. (Peter J.), Hillege, H.L. (Hans), Watkins, H. (Hugh), Spector, T.D. (Timothy), Becker, L.C. (Lewis), Tracy, R.P. (Russell), März, W. (Winfried), Uitterlinden, A.G. (André), Eriksson, P. (Per), Cambien, F. (François), Morange, P.-E. (P.), Koenig, W. (Wolfgang), Soranzo, N. (Nicole), Harst, P. (Pim) van der, Liu, Y. (YongMei), O'Donnell, C.J. (Christopher), Hamsten, A. (Anders), Huang, J. (Jian), Sabater-Lleal, M. (Maria), Asselbergs, F.W. (Folkert), Tregouet, D.-A. (David-Alexandre), Shin, S.-Y., Ding, J. (Jingzhong), Baumert, J. (Jens), Oudot-Mellakh, T. (Tiphaine), Folkersen, L. (Lasse), Johnson, A.D. (Andrew), Smith, N.L. (Nicholas), Williams, S.M. (Scott), Ikram, M.A. (Arfan), Kleber, M.E. (Marcus), Becker, D.M. (Diane), Truong, V. (Vinh), Mychaleckyj, J.C. (Josyf), Tang, W. (Weihong), Yang, Q. (Qiong Fang), Sennblad, B. (Bengt), Moore, J.H. (Jason), Williams, F.M. (Frances), Dehghan, A. (Abbas), Silbernagel, G. (Günther), Schrijvers, E.M.C. (Elisabeth M. C.), Smith, S. (Sarah), Karakas, M. (Mahir), Tofler, G.H. (Geoffrey), Silveira, A. (Angela), Navis, G. (Gerjan), Lohman, K. (Kurt), Chen, M-H. (Ming-Huei), Peters, A. (Annette), Goel, A. (Anuj), Hopewell, J., Chambers, J.C. (John), Saleheen, D., Lundmark, P. (Per), Psaty, B.M. (Bruce), Strawbridge, R.J. (Rona), Boehm, B.O. (Bernhard), Carter, A.M. (Angela M.), Meisinger, C. (Christa), Peden, J. (John), Bis, J.C. (Joshua), McKnight, B. (Barbara), Öhrvik, J. (John), Taylor, K.D. (Kent), Franzosi, M., Seedorf, U. (Udo), Collins, R. (Rory), Franco-Cereceda, A. (Anders), Syvanen, A.C., Goodall, A.H. (Alison), Yanek, L.R. (Lisa), Cushman, M. (Mary Ann), Müller-Nurasyid, M. (Martina), Folsom, A.R. (Aaron), Basu, S. (Saonli), Aleksic, N. (Nena), Gilst, W.H. (Wiek) van, Kooner, J.S. (Jaspal), Hofman, A. (Albert), Danesh, J. (John), Clarke, R. (Robert), Meigs, J.B. (James), Kathiresan, S. (Sekar), Reilly, M.P. (Muredach), Klopp, N. (Norman), Harris, T.B. (Tamara), Winkelmann, B., Grant, P.J. (Peter J.), Hillege, H.L. (Hans), Watkins, H. (Hugh), Spector, T.D. (Timothy), Becker, L.C. (Lewis), Tracy, R.P. (Russell), März, W. (Winfried), Uitterlinden, A.G. (André), Eriksson, P. (Per), Cambien, F. (François), Morange, P.-E. (P.), Koenig, W. (Wolfgang), Soranzo, N. (Nicole), Harst, P. (Pim) van der, Liu, Y. (YongMei), O'Donnell, C.J. (Christopher), and Hamsten, A. (Anders)
Published: 2012
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17. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

Author: Ehret, G.B. (Georg), Munroe, P. (Patricia), Rice, K.M. (Kenneth), Bochud, M. (Murielle), Johnson, A.D. (Andrew), Chasman, D.I. (Daniel), Smith, A.V. (Albert Vernon), Tobin, M.D. (Martin), Verwoert, G.C. (Germaine), Hwang, S.J., Pihur, V. (Vasyl), Vollenweider, P. (Peter), O'Reilly, P.F. (Paul), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Teumer, A. (Alexander), Glazer, N.L. (Nicole), Launer, L.J. (Lenore), Zhao, J.H. (Jing Hua), Aulchenko, Y.S. (Yurii), Heath, S.C. (Simon), Sõber, S. (Siim), Parsa, A. (Afshin), Luan, J., Arora, P. (Pankaj), Dehghan, A. (Abbas), Zhang, F. (Feng), Lucas, G. (Gavin), Hicks, A.A. (Andrew), Jackson, A.U. (Anne), Peden, J. (John), Tanaka, T. (Toshiko), Wild, S.H. (Sarah), Rudan, I. (Igor), Igl, W. (Wilmar), Milaneschi, Y. (Yuri), Parker, A.N. (Alex), Fava, C. (Cristiano), Chambers, J.C. (John), Fox, E.R. (Ervin), Kumari, M. (Meena), Jin Go, M. (Min), Harst, P. (Pim) van der, Kao, W.-H.L. (Wen-Hong Linda), Sjögren, M. (Marketa), Vinay, D.G., Alexander, M. (Myriam), Tabara, Y. (Yasuharu), Shaw-Hawkins, S. (Sue), Whincup, P.H. (Peter), Liu, Y. (YongMei), Shi, G. (Gang), Kuusisto, J. (Johanna), Tayo, B. (Bamidele), Seielstad, M. (Mark), Sim, X. (Xueling), Hoang Nguyen, K.-D., Lehtimäki, T. (Terho), Matullo, G. (Giuseppe), Wu, Y. (Ying), Gaunt, T.R. (Tom), Onland-Moret, N.C. (Charlotte), Cooper, M.N. (Matthew), Platou, C. (Carl), Org, E. (Elin), Hardy, R. (Rebecca), Dahgam, S. (Santosh), Palmen, J. (Jutta), Vitart, V. (Veronique), Braund, P.S. (Peter), Kuznetsova, T. (Tatiana), Uiterwaal, C.S.P.M. (Cuno), Adeyemo, A. (Adebowale), Palmas, W. (Walter), Campbell, H. (Harry), Ludwig, B. (Barbara), Tomaszewski, M., Tzoulaki, I., Palmer, N.D. (Nicholette), Aspelund, T. (Thor), Garcia, M. (Melissa), Chang, Y.-P.C. (Yen-Pei), O´Connell, J.R., Steinle, N.I. (Nanette), Grobbee, D.E. (Diederick), Arking, D.E. (Dan), Kardia, S.L. (Sharon), Morrison, A.C. (Alanna), Hernandez, D.G. (Dena), Najjar, S.S. (Samer), McArdle, W.L. (Wendy), Hadley, D. (David), Brown, M.J. (Morris), Connell, J. (John), Hingorani, A. (Aroon), Day, I.N.M. (Ian), Lawlor, D.A. (Debbie), Beilby, J.P. (John), Lawrence, R.W. (Robert), Clarke, R., Hopewell, J., Ongen, H. (Halit), Dreisbach, A.W. (Albert), Li, Y. (Yali), Hunter Young, J., Bis, J.C. (Joshua), Kähönen, M. (Mika), Viikari, J. (Jorma), Lee, N.R. (Nanette), Chen, M-H. (Ming-Huei), Olden, M. (Matthias), Pattaro, C. (Cristian), Hoffman Bolton, J.A. (Judith), Köttgen, A. (Anna), Bergmann, S.M. (Sven), Mooser, V. (Vincent), Chaturvedi, N. (Nish), Frayling, T.M. (Timothy), Islam, M. (Muhammad), Jafar, T.H. (Tazeen), Kulkarni, S.R. (Smita), Bornstein, S.R. (Stefan), Gräßler, J. (Jürgen), Groop, L. (Leif), Voight, B.F. (Benjamin), Kettunen, J. (Johannes), Howard, P. (Philip), Taylor, A. (Andrew), Guarrera, S. (Simonetta), Ricceri, F. (Fulvio), Emilsson, V. (Valur), Plump, A.S. (Andrew), Khaw, K-T. (Kay-Tee), Weder, A.B. (Alan), Hunt, S.C. (Steven), Sun, Y.V. (Yan), Bergman, R.N. (Richard), Collins, F.S. (Francis), Bonnycastle, L.L. (Lori), Scott, L.J. (Laura), Stringham, H.M. (Heather), Peltonen, L. (Leena Johanna), Perola, M. (Markus), Vartiainen, E. (Erkki), Brand, S.-M., Staessen, J.A. (Jan), Wang, Y.A. (Ying), Burton, P.R. (Paul), Soler Artigas, M. (Maria), Dong, Y. (Yanbin), Snieder, H. (Harold), Zhu, H. (Haidong), Lohman, K. (Kurt), Rudock, M.E. (Megan), Heckbert, S.R. (Susan), Wiggins, K.L. (Kerri), Doumatey, A. (Ayo), Shriner, D. (Daniel), Veldre, G. (Gudrun), Viigimaa, M. (Margus), Kinra, S. (Sanjay), Prabhakaran, D. (Dorairaj), Tripathy, V. (Vikal), Langefeld, C.D. (Carl), Rosengren, A. (Annika), Thelle, D.S. (Dag), Corsi, A.M. (Anna Maria), Singleton, A. (Andrew), Forrester, T. (Terrence), Hilton, G. (Gina), McKenzie, C.A. (Colin), Salako, T. (Tunde), Iwai, N. (Naoharu), Kita, Y. (Yoshikuni), Ogihara, T. (Toshio), Ohkubo, T. (Takayoshi), Okamura, T. (Tomonori), Ueshima, H. (Hirotsugu), Umemura, S. (Satoshi), Eyheramendy, S. (Susana), Meitinger, T. (Thomas), Wichmann, H.E. (Heinz Erich), Shin Cho, Y. (Yoon), Kim, H.-L., Sehmi, J.S. (Joban), Hedblad, B. (Bo), Nilsson, P. (Peter), Davey-Smith, G. (George), Wong, A. (Andrew), Narisu, N. (Narisu), Stancáková, A. (Alena), Raffel, L.J. (Leslie), Yao, J. (Jie), Kathiresan, S. (Sekar), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Ikram, M.A. (Arfan), Longstreth Jr, W.T., Mosley, T.H. (Thomas), Seshadri, S. (Sudha), Shrine, N.R.G. (Nick), Wain, L.V. (Louise), Morken, M.A. (Mario), Swift, A.J. (Amy), Laitinen, J. (Jaana), Prokopenko, I. (Inga), Zitting, P. (Paavo), Humphries, S.E. (Steve), Danesh, J. (John), Rasheed, A. (Asif), Goel, A. (Anuj), Hamsten, A. (Anders), Watkins, H. (Hugh), Gilst, W.H. (Wiek) van, Janipalli, C.S. (Charles), Radha Mani, K., Yajnik, C. (Chittaranjan), Hofman, A. (Albert), Mattace Raso, F.U.S. (Francesco), Oostra, B.A. (Ben), Demirkan, A. (Ayşe), Isaacs, A.J. (Aaron), Rivadeneira Ramirez, F. (Fernando), Lakatta, E. (Edward), Orrù, M. (Marco), Scuteri, A. (Angelo), Ala-Korpela, M. (Mika), Kangas, A.J. (Antti), Lyytikäinen, L.-P. (Leo-Pekka), Soininen, P. (Pasi), Tukiainen, T. (Taru), Würtz, P. (Peter), Twee-Hee Ong, R. (Rick), Dörr, M. (Marcus), Kroemer, H.K. (Heyo), Völker, U. (Uwe), Völzke, H. (Henry), Galan, P. (Pilar), Hercberg, S. (Serge), Lathrop, G.M. (Mark), Zelenika, D. (Diana), Deloukas, P. (Panagiotis), Mangino, M. (Massimo), Spector, T.D. (Timothy), Zhai, G. (Guangju), Meschia, J.F. (James F.), Nalls, M.A. (Michael), Sharma, P. (Pankaj), Terzic, J. (Janos), Kranthi Kumar, M.V., Denniff, M. (Matthew), Zukowska-Szczechowska, E. (Ewa), Wagenknecht, L.E. (Lynne), Fowkes, F.G.R. (Gerald), Charchar, F.J. (Fadi), Schwarz, P.E.H. (Peter), Hayward, C. (Caroline), Guo, X. (Xiuqing), Rotimi, C. (Charles), Bots, M.L. (Michiel), Samani, N.J. (Nilesh), Polasek, O. (Ozren), Talmud, P.J. (Philippa), Nyberg, F. (Fredrik), Kuh, D. (Diana), Laan, M. (Maris), Hveem, K. (Kristian), Schouw, Y.T. (Yvonne) van der, Casas, J.P. (Juan), Mohlke, K.L. (Karen), Vineis, P. (Paolo), Raitakari, O. (Olli), Ganesh, S.K. (Santhi), Shyong Tai, E., Laakso, M. (Markku), Rao, D.C. (Dabeeru C.), Harris, T.B. (Tamara), Morris, R.W. (Richard), Dominiczak, A. (Anna), Kivimaki, M. (Mika), Marmot, M. (Michael), Miki, T. (Tetsuro), Saleheen, D., Chandak, G.R. (Giriraj), Coresh, J. (Josef), Navis, G. (Gerjan), Salomaa, V. (Veikko), Han, B.-G., Kooner, J.S. (Jaspal), Melander, O. (Olle), Ridker, P.M. (Paul), Bandinelli, S. (Stefania), Gyllensten, U. (Ulf), Wright, A.F. (Alan), Wilson, J.F. (James), Ferrucci, L. (Luigi), Farrall, M. (Martin), Tuomilehto, J. (Jaakko), Pramstaller, P.P. (Peter Paul), Elosua, R. (Roberto), Soranzo, N. (Nicole), Sijbrands, E.J.G. (Eric), Altshuler, D. (David), Loos, R.J.F. (Ruth), Shuldiner, A.R. (Alan), Gieger, C. (Christian), Meneton, P. (Pierre), Uitterlinden, A.G. (André), Wareham, N.J. (Nick), Gudnason, V. (Vilmundur), Rotter, J.I. (Jerome), Rettig, R. (Rainer), Uda, M. (Manuela), Strachan, D.P. (David), Witteman, J.C.M. (Jacqueline), Hartikainen, A.L., Beckmann, J.S. (Jacques), Boerwinkle, E.A. (Eric), Erdmann, J. (Jeanette), Vasan, R.S. (Ramachandran Srini), Boehnke, M. (Michael), Larson, M.G. (Martin), Järvelin, M.R., Psaty, B.M. (Bruce), Tikka-Kleemola, P. (Päivi), Newton-Cheh, C. (Christopher), Elliott, P. (Paul), Levy, D. (Daniel), Caulfield, M. (Mark), Abecasis, G.R. (Gonçalo), Adair, L.S. (Linda), Bakker, S.J.L. (Stephan), Barroso, I.E. (Inês), Ehret, G.B. (Georg), Munroe, P. (Patricia), Rice, K.M. (Kenneth), Bochud, M. (Murielle), Johnson, A.D. (Andrew), Chasman, D.I. (Daniel), Smith, A.V. (Albert Vernon), Tobin, M.D. (Martin), Verwoert, G.C. (Germaine), Hwang, S.J., Pihur, V. (Vasyl), Vollenweider, P. (Peter), O'Reilly, P.F. (Paul), Amin, N. (Najaf), Bragg-Gresham, J.L. (Jennifer L.), Teumer, A. (Alexander), Glazer, N.L. (Nicole), Launer, L.J. (Lenore), Zhao, J.H. (Jing Hua), Aulchenko, Y.S. (Yurii), Heath, S.C. (Simon), Sõber, S. (Siim), Parsa, A. (Afshin), Luan, J., Arora, P. (Pankaj), Dehghan, A. (Abbas), Zhang, F. (Feng), Lucas, G. (Gavin), Hicks, A.A. (Andrew), Jackson, A.U. (Anne), Peden, J. (John), Tanaka, T. (Toshiko), Wild, S.H. (Sarah), Rudan, I. (Igor), Igl, W. (Wilmar), Milaneschi, Y. (Yuri), Parker, A.N. (Alex), Fava, C. (Cristiano), Chambers, J.C. (John), Fox, E.R. (Ervin), Kumari, M. (Meena), Jin Go, M. (Min), Harst, P. (Pim) van der, Kao, W.-H.L. (Wen-Hong Linda), Sjögren, M. (Marketa), Vinay, D.G., Alexander, M. (Myriam), Tabara, Y. (Yasuharu), Shaw-Hawkins, S. (Sue), Whincup, P.H. (Peter), Liu, Y. (YongMei), Shi, G. (Gang), Kuusisto, J. (Johanna), Tayo, B. (Bamidele), Seielstad, M. (Mark), Sim, X. (Xueling), Hoang Nguyen, K.-D., Lehtimäki, T. (Terho), Matullo, G. (Giuseppe), Wu, Y. (Ying), Gaunt, T.R. (Tom), Onland-Moret, N.C. (Charlotte), Cooper, M.N. (Matthew), Platou, C. (Carl), Org, E. (Elin), Hardy, R. (Rebecca), Dahgam, S. (Santosh), Palmen, J. (Jutta), Vitart, V. (Veronique), Braund, P.S. (Peter), Kuznetsova, T. (Tatiana), Uiterwaal, C.S.P.M. (Cuno), Adeyemo, A. (Adebowale), Palmas, W. (Walter), Campbell, H. (Harry), Ludwig, B. (Barbara), Tomaszewski, M., Tzoulaki, I., Palmer, N.D. (Nicholette), Aspelund, T. (Thor), Garcia, M. (Melissa), Chang, Y.-P.C. (Yen-Pei), O´Connell, J.R., Steinle, N.I. (Nanette), Grobbee, D.E. (Diederick), Arking, D.E. (Dan), Kardia, S.L. (Sharon), Morrison, A.C. (Alanna), Hernandez, D.G. (Dena), Najjar, S.S. (Samer), McArdle, W.L. (Wendy), Hadley, D. (David), Brown, M.J. (Morris), Connell, J. (John), Hingorani, A. (Aroon), Day, I.N.M. (Ian), Lawlor, D.A. (Debbie), Beilby, J.P. (John), Lawrence, R.W. (Robert), Clarke, R., Hopewell, J., Ongen, H. (Halit), Dreisbach, A.W. (Albert), Li, Y. (Yali), Hunter Young, J., Bis, J.C. (Joshua), Kähönen, M. (Mika), Viikari, J. (Jorma), Lee, N.R. (Nanette), Chen, M-H. (Ming-Huei), Olden, M. (Matthias), Pattaro, C. (Cristian), Hoffman Bolton, J.A. (Judith), Köttgen, A. (Anna), Bergmann, S.M. (Sven), Mooser, V. (Vincent), Chaturvedi, N. (Nish), Frayling, T.M. (Timothy), Islam, M. (Muhammad), Jafar, T.H. (Tazeen), Kulkarni, S.R. (Smita), Bornstein, S.R. (Stefan), Gräßler, J. (Jürgen), Groop, L. (Leif), Voight, B.F. (Benjamin), Kettunen, J. (Johannes), Howard, P. (Philip), Taylor, A. (Andrew), Guarrera, S. (Simonetta), Ricceri, F. (Fulvio), Emilsson, V. (Valur), Plump, A.S. (Andrew), Khaw, K-T. (Kay-Tee), Weder, A.B. (Alan), Hunt, S.C. (Steven), Sun, Y.V. (Yan), Bergman, R.N. (Richard), Collins, F.S. (Francis), Bonnycastle, L.L. (Lori), Scott, L.J. (Laura), Stringham, H.M. (Heather), Peltonen, L. (Leena Johanna), Perola, M. (Markus), Vartiainen, E. (Erkki), Brand, S.-M., Staessen, J.A. (Jan), Wang, Y.A. (Ying), Burton, P.R. (Paul), Soler Artigas, M. (Maria), Dong, Y. (Yanbin), Snieder, H. (Harold), Zhu, H. (Haidong), Lohman, K. (Kurt), Rudock, M.E. (Megan), Heckbert, S.R. (Susan), Wiggins, K.L. (Kerri), Doumatey, A. (Ayo), Shriner, D. (Daniel), Veldre, G. (Gudrun), Viigimaa, M. (Margus), Kinra, S. (Sanjay), Prabhakaran, D. (Dorairaj), Tripathy, V. (Vikal), Langefeld, C.D. (Carl), Rosengren, A. (Annika), Thelle, D.S. (Dag), Corsi, A.M. (Anna Maria), Singleton, A. (Andrew), Forrester, T. (Terrence), Hilton, G. (Gina), McKenzie, C.A. (Colin), Salako, T. (Tunde), Iwai, N. (Naoharu), Kita, Y. (Yoshikuni), Ogihara, T. (Toshio), Ohkubo, T. (Takayoshi), Okamura, T. (Tomonori), Ueshima, H. (Hirotsugu), Umemura, S. (Satoshi), Eyheramendy, S. (Susana), Meitinger, T. (Thomas), Wichmann, H.E. (Heinz Erich), Shin Cho, Y. (Yoon), Kim, H.-L., Sehmi, J.S. (Joban), Hedblad, B. (Bo), Nilsson, P. (Peter), Davey-Smith, G. (George), Wong, A. (Andrew), Narisu, N. (Narisu), Stancáková, A. (Alena), Raffel, L.J. (Leslie), Yao, J. (Jie), Kathiresan, S. (Sekar), O'Donnell, C.J. (Christopher), Schwartz, S.M. (Stephen), Ikram, M.A. (Arfan), Longstreth Jr, W.T., Mosley, T.H. (Thomas), Seshadri, S. (Sudha), Shrine, N.R.G. (Nick), Wain, L.V. (Louise), Morken, M.A. (Mario), Swift, A.J. (Amy), Laitinen, J. (Jaana), Prokopenko, I. (Inga), Zitting, P. (Paavo), Humphries, S.E. (Steve), Danesh, J. (John), Rasheed, A. (Asif), Goel, A. (Anuj), Hamsten, A. (Anders), Watkins, H. (Hugh), Gilst, W.H. (Wiek) van, Janipalli, C.S. (Charles), Radha Mani, K., Yajnik, C. (Chittaranjan), Hofman, A. (Albert), Mattace Raso, F.U.S. (Francesco), Oostra, B.A. (Ben), Demirkan, A. (Ayşe), Isaacs, A.J. (Aaron), Rivadeneira Ramirez, F. (Fernando), Lakatta, E. (Edward), Orrù, M. (Marco), Scuteri, A. (Angelo), Ala-Korpela, M. (Mika), Kangas, A.J. (Antti), Lyytikäinen, L.-P. (Leo-Pekka), Soininen, P. (Pasi), Tukiainen, T. (Taru), Würtz, P. (Peter), Twee-Hee Ong, R. (Rick), Dörr, M. (Marcus), Kroemer, H.K. (Heyo), Völker, U. (Uwe), Völzke, H. (Henry), Galan, P. (Pilar), Hercberg, S. (Serge), Lathrop, G.M. (Mark), Zelenika, D. (Diana), Deloukas, P. (Panagiotis), Mangino, M. (Massimo), Spector, T.D. (Timothy), Zhai, G. (Guangju), Meschia, J.F. (James F.), Nalls, M.A. (Michael), Sharma, P. (Pankaj), Terzic, J. (Janos), Kranthi Kumar, M.V., Denniff, M. (Matthew), Zukowska-Szczechowska, E. (Ewa), Wagenknecht, L.E. (Lynne), Fowkes, F.G.R. (Gerald), Charchar, F.J. (Fadi), Schwarz, P.E.H. (Peter), Hayward, C. (Caroline), Guo, X. (Xiuqing), Rotimi, C. (Charles), Bots, M.L. (Michiel), Samani, N.J. (Nilesh), Polasek, O. (Ozren), Talmud, P.J. (Philippa), Nyberg, F. (Fredrik), Kuh, D. (Diana), Laan, M. (Maris), Hveem, K. (Kristian), Schouw, Y.T. (Yvonne) van der, Casas, J.P. (Juan), Mohlke, K.L. (Karen), Vineis, P. (Paolo), Raitakari, O. (Olli), Ganesh, S.K. (Santhi), Shyong Tai, E., Laakso, M. (Markku), Rao, D.C. (Dabeeru C.), Harris, T.B. (Tamara), Morris, R.W. (Richard), Dominiczak, A. (Anna), Kivimaki, M. (Mika), Marmot, M. (Michael), Miki, T. (Tetsuro), Saleheen, D., Chandak, G.R. (Giriraj), Coresh, J. (Josef), Navis, G. (Gerjan), Salomaa, V. (Veikko), Han, B.-G., Kooner, J.S. (Jaspal), Melander, O. (Olle), Ridker, P.M. (Paul), Bandinelli, S. (Stefania), Gyllensten, U. (Ulf), Wright, A.F. (Alan), Wilson, J.F. (James), Ferrucci, L. (Luigi), Farrall, M. (Martin), Tuomilehto, J. (Jaakko), Pramstaller, P.P. (Peter Paul), Elosua, R. (Roberto), Soranzo, N. (Nicole), Sijbrands, E.J.G. (Eric), Altshuler, D. (David), Loos, R.J.F. (Ruth), Shuldiner, A.R. (Alan), Gieger, C. (Christian), Meneton, P. (Pierre), Uitterlinden, A.G. (André), Wareham, N.J. (Nick), Gudnason, V. (Vilmundur), Rotter, J.I. (Jerome), Rettig, R. (Rainer), Uda, M. (Manuela), Strachan, D.P. (David), Witteman, J.C.M. (Jacqueline), Hartikainen, A.L., Beckmann, J.S. (Jacques), Boerwinkle, E.A. (Eric), Erdmann, J. (Jeanette), Vasan, R.S. (Ramachandran Srini), Boehnke, M. (Michael), Larson, M.G. (Martin), Järvelin, M.R., Psaty, B.M. (Bruce), Tikka-Kleemola, P. (Päivi), Newton-Cheh, C. (Christopher), Elliott, P. (Paul), Levy, D. (Daniel), Caulfield, M. (Mark), Abecasis, G.R. (Gonçalo), Adair, L.S. (Linda), Bakker, S.J.L. (Stephan), and Barroso, I.E. (Inês)
Abstract: Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140mmg Hg systolic blood pressure ≥90mmg Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3 GUCY1B3, NPR3 C5orf23, ADM, FURIN FES, GOSR2, GNAS EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 geno
Published: 2011
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18. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

Author: Surakka, I. (Ida), Isaacs, A.J. (Aaron), Karssen, L.C. (Lennart), Laurila, P.-P.P., Middelberg, R.P.S. (Rita), Tikkanen, E. (Emmi), Ried, J.S. (Janina), Lamina, C. (Claudia), Mangino, M. (Massimo), Igl, W. (Wilmar), Hottenga, J.J. (Jouke Jan), Lagou, V. (Vasiliki), Harst, P. (Pim) van der, Leach, I.M. (Irene Mateo), Esko, T. (Tõnu), Kutalik, Z. (Zoltán), Wainwright, N.W. (Nicholas), Struchalin, M.V. (Maksim), Sarin, A.-P., Kangas, A.J. (Antti), Viikari, J. (Jorma), Perola, M. (Markus), Rantanen, T. (Taina), Petersen, A.K., Soininen, P. (Pasi), Johansson, A. (Åsa), Soranzo, N. (Nicole), Heath, A.C. (Andrew), Papamarkou, T. (Theodore), Prokopenko, I. (Inga), Tönjes, A. (Anke), Kronenberg, F. (Florian), Döring, A. (Angela), Rivadeneira Ramirez, F. (Fernando), Montgomery, G.W. (Grant), Whitfield, J.B. (John), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Freimer, N.B. (Nelson), Willemsen, G.A.H.M. (Gonneke), Geus, E.J.C. (Eco) de, Palotie, A. (Aarno), Sandhu, M.S. (Manj), Waterworth, D. (Dawn), Metspalu, A. (Andres), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Jula, A. (Antti), Navis, G. (Gerjan), Wijmenga, C. (Cisca), Wolffenbuttel, B.H.R. (Bruce), Taskinen, M.-R., Ala-Korpela, M. (Mika), Kaprio, J. (Jaakko), Kyvik, K.O. (Kirsten Ohm), Boomsma, D.I. (Dorret), Pedersen, N.L. (Nancy), Gyllensten, U. (Ulf), Wilson, J.F. (James), Rudan, I. (Igor), Campbell, H. (Harry), Pramstaller, P.P. (Peter Paul), Spector, T.D. (Timothy), Witteman, J.C.M. (Jacqueline), Eriksson, J.G. (Johan), Salomaa, V. (Veikko), Oostra, B.A. (Ben), Raitakari, O. (Olli), Wichmann, H.E. (Heinz Erich), Gieger, C. (Christian), Järvelin, M.R., Martin, N.G. (Nicholas), Hofman, A. (Albert), McCarthy, M.I. (Mark), Aulchenko, Y.S. (Yurii), Peltonen, L. (Leena Johanna), Tikka-Kleemola, P. (Päivi), Ripatti, S. (Samuli), Surakka, I. (Ida), Isaacs, A.J. (Aaron), Karssen, L.C. (Lennart), Laurila, P.-P.P., Middelberg, R.P.S. (Rita), Tikkanen, E. (Emmi), Ried, J.S. (Janina), Lamina, C. (Claudia), Mangino, M. (Massimo), Igl, W. (Wilmar), Hottenga, J.J. (Jouke Jan), Lagou, V. (Vasiliki), Harst, P. (Pim) van der, Leach, I.M. (Irene Mateo), Esko, T. (Tõnu), Kutalik, Z. (Zoltán), Wainwright, N.W. (Nicholas), Struchalin, M.V. (Maksim), Sarin, A.-P., Kangas, A.J. (Antti), Viikari, J. (Jorma), Perola, M. (Markus), Rantanen, T. (Taina), Petersen, A.K., Soininen, P. (Pasi), Johansson, A. (Åsa), Soranzo, N. (Nicole), Heath, A.C. (Andrew), Papamarkou, T. (Theodore), Prokopenko, I. (Inga), Tönjes, A. (Anke), Kronenberg, F. (Florian), Döring, A. (Angela), Rivadeneira Ramirez, F. (Fernando), Montgomery, G.W. (Grant), Whitfield, J.B. (John), Kähönen, M. (Mika), Lehtimäki, T. (Terho), Freimer, N.B. (Nelson), Willemsen, G.A.H.M. (Gonneke), Geus, E.J.C. (Eco) de, Palotie, A. (Aarno), Sandhu, M.S. (Manj), Waterworth, D. (Dawn), Metspalu, A. (Andres), Stumvoll, M. (Michael), Uitterlinden, A.G. (André), Jula, A. (Antti), Navis, G. (Gerjan), Wijmenga, C. (Cisca), Wolffenbuttel, B.H.R. (Bruce), Taskinen, M.-R., Ala-Korpela, M. (Mika), Kaprio, J. (Jaakko), Kyvik, K.O. (Kirsten Ohm), Boomsma, D.I. (Dorret), Pedersen, N.L. (Nancy), Gyllensten, U. (Ulf), Wilson, J.F. (James), Rudan, I. (Igor), Campbell, H. (Harry), Pramstaller, P.P. (Peter Paul), Spector, T.D. (Timothy), Witteman, J.C.M. (Jacqueline), Eriksson, J.G. (Johan), Salomaa, V. (Veikko), Oostra, B.A. (Ben), Raitakari, O. (Olli), Wichmann, H.E. (Heinz Erich), Gieger, C. (Christian), Järvelin, M.R., Martin, N.G. (Nicholas), Hofman, A. (Albert), McCarthy, M.I. (Mark), Aulchenko, Y.S. (Yurii), Peltonen, L. (Leena Johanna), Tikka-Kleemola, P. (Päivi), and Ripatti, S. (Samuli)
Abstract: Recent genome-wide association (GWA) studies described 95 loci controlling serum lipid levels. These common variants explain ~25% of the heritability of the phenotypes. To date, no unbiased screen for gene-environment interactions for circulating lipids has been reported. We screened for variants that modify the relationship between known epidemiological risk factors and circulating lipid levels in a meta-analysis of genome-wide association (GWA) data from 18 population-based cohorts with European ancestry (maximum N = 32,225). We collected 8 further cohorts (N = 17,102) for replication, and rs6448771 on 4p15 demonstrated genome-wide significant interaction with waist-to-hip-ratio (WHR) on total cholesterol (TC) with a combined P-value of 4.79×10-9. There were two potential candidate genes in the region, PCDH7 and CCKAR, with differential expression levels for rs6448771 genotypes in adipose tissue. The effect of WHR on TC was strongest for individuals carrying two copies of G allele, for whom a one standard deviation (sd) difference in WHR corresponds to 0.19 sd difference in TC concentration, while for A allele homozygous the difference was 0.12 sd. Our findings may open up possibilities for targeted intervention strategies for people characterized by specific genomic profiles. However, more refined measures of both body-fat distribution and metabolic measures are needed to understand how their joint dynamics are modified by the newly found locus.
Published: 2011
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19. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

Author: Schumann, G. (Gunter), Coin, L. (Lachlan), Lourdusamy, A. (Anbarasu), Charoen, P. (Pimphen), Berger, K.H. (Karen), Stacey, D. (David), Desrivières, S. (Sylvane), Aliev, F.A. (Fazil), Khan, A.A. (Anokhi), Amin, N. (Najaf), Bakalkin, G. (Georgy), Balkau, B. (Beverley), Beulens, J.W.J. (Joline), Bilbao, A. (Ainhoa), Boer, R.A. (Rudolf) de, Beury, D. (Delphine), Bots, M.L. (Michiel), Breetvelt, E.J. (Elemi), Cauchi, S. (Stephane), Cavalcanti-Proença, C. (Christine), Chambers, J.C. (John), Clarke, T.-K., Dahmen, N. (N.), Geus, E.J.C. (Eco) de, Dick, D. (Danielle), Ducci, F. (Francesca), Easton, A. (Alanna), Edenberg, H.J. (Howard), Esk, T. (Tõnu), Fernández-Medarde, A. (Alberto), Foroud, T. (Tatiana), Freimer, N.B. (Nelson), Girault, J.-A., Grobbee, D.E. (Diederick), Guarrera, S. (Simonetta), Gudbjartsson, D.F. (Daniel), Hartikainen, A.L., Heath, A.C. (Andrew), Hesselbrock, V. (Victor), Hofman, A. (Albert), Hottenga, J.J. (Jouke Jan), Isohanni, M.K. (Matti), Kaprio, J. (Jaakko), Khaw, K-T. (Kay-Tee), Kuehnel, B. (Brigitte), Laitinen, J. (Jaana), Lobbens, S. (Stéphane), Luan, J., Mangino, M. (Massimo), Maroteaux, M. (Matthieu), Matullo, G. (Giuseppe), McCarthy, M.I. (Mark), Mueller, C. (Christian), Navis, G. (Gerjan), Numans, M.E. (Mattijs), Núñez, A.M. (Alejandro), Nyholt, D.R. (Dale), Onland-Moret, N.C. (Charlotte), Oostra, B.A. (Ben), O'Reilly, P.F. (Paul), Palkovits, M. (Miklos), Penninx, B.W.J.H. (Brenda), Polidoro, S. (Silvia), Pouta, A. (Anneli), Prokopenko, I. (Inga), Ricceri, F. (Fulvio), Santos, E. (Eugenio), Smit, J.H. (Johannes), Soranzo, N. (Nicole), Song, K. (Kijoung), Sovio, U. (Ulla), Stumvoll, M. (Michael), Surakk, I. (Ida), Thorgeirsson, T.E. (Thorgeir), Thorsteinsdottir, U. (Unnur), Troakes, C. (Claire), Tyrfingsson, T. (Thorarinn), Tönjes, A. (Anke), Uiterwaal, C.S.P.M. (Cuno), Uitterlinden, A.G. (André), Harst, P. (Pim) van der, Schouw, Y.T. (Yvonne) van der, Staehlin, O. (Oliver), Vogelzangs, N. (Nicole), Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Whitfield, J.B. (John), Wichmann, E.H. (Erich), Willemsen, G.A.H.M. (Gonneke), Witteman, J.C.M. (Jacqueline), Yuan, X. (Xin), Zhai, G. (Guangju), Zhao, J.H. (Jing Hua), Zhang, W. (Weihua), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Doering, A. (Angela), Scott, J. (James), Spector, T.D. (Timothy), Loos, R.J.F. (Ruth), Boomsma, D.I. (Dorret), Mooser, V. (Vincent), Peltonen, L. (Leena Johanna), Stefansson, K. (Kari), Tikka-Kleemola, P. (Päivi), Vineis, P. (Paolo), Sommer, W.H. (Wolfgang), Kooner, J.S. (Jaspal), Spanagel, R. (Rainer), Heberlein, U.A. (Ulrike), Järvelin, M.R., Elliott, P. (Paul), Aulchenko, Y.S. (Yurii), Bakker, S.J.L. (Stephan), Schumann, G. (Gunter), Coin, L. (Lachlan), Lourdusamy, A. (Anbarasu), Charoen, P. (Pimphen), Berger, K.H. (Karen), Stacey, D. (David), Desrivières, S. (Sylvane), Aliev, F.A. (Fazil), Khan, A.A. (Anokhi), Amin, N. (Najaf), Bakalkin, G. (Georgy), Balkau, B. (Beverley), Beulens, J.W.J. (Joline), Bilbao, A. (Ainhoa), Boer, R.A. (Rudolf) de, Beury, D. (Delphine), Bots, M.L. (Michiel), Breetvelt, E.J. (Elemi), Cauchi, S. (Stephane), Cavalcanti-Proença, C. (Christine), Chambers, J.C. (John), Clarke, T.-K., Dahmen, N. (N.), Geus, E.J.C. (Eco) de, Dick, D. (Danielle), Ducci, F. (Francesca), Easton, A. (Alanna), Edenberg, H.J. (Howard), Esk, T. (Tõnu), Fernández-Medarde, A. (Alberto), Foroud, T. (Tatiana), Freimer, N.B. (Nelson), Girault, J.-A., Grobbee, D.E. (Diederick), Guarrera, S. (Simonetta), Gudbjartsson, D.F. (Daniel), Hartikainen, A.L., Heath, A.C. (Andrew), Hesselbrock, V. (Victor), Hofman, A. (Albert), Hottenga, J.J. (Jouke Jan), Isohanni, M.K. (Matti), Kaprio, J. (Jaakko), Khaw, K-T. (Kay-Tee), Kuehnel, B. (Brigitte), Laitinen, J. (Jaana), Lobbens, S. (Stéphane), Luan, J., Mangino, M. (Massimo), Maroteaux, M. (Matthieu), Matullo, G. (Giuseppe), McCarthy, M.I. (Mark), Mueller, C. (Christian), Navis, G. (Gerjan), Numans, M.E. (Mattijs), Núñez, A.M. (Alejandro), Nyholt, D.R. (Dale), Onland-Moret, N.C. (Charlotte), Oostra, B.A. (Ben), O'Reilly, P.F. (Paul), Palkovits, M. (Miklos), Penninx, B.W.J.H. (Brenda), Polidoro, S. (Silvia), Pouta, A. (Anneli), Prokopenko, I. (Inga), Ricceri, F. (Fulvio), Santos, E. (Eugenio), Smit, J.H. (Johannes), Soranzo, N. (Nicole), Song, K. (Kijoung), Sovio, U. (Ulla), Stumvoll, M. (Michael), Surakk, I. (Ida), Thorgeirsson, T.E. (Thorgeir), Thorsteinsdottir, U. (Unnur), Troakes, C. (Claire), Tyrfingsson, T. (Thorarinn), Tönjes, A. (Anke), Uiterwaal, C.S.P.M. (Cuno), Uitterlinden, A.G. (André), Harst, P. (Pim) van der, Schouw, Y.T. (Yvonne) van der, Staehlin, O. (Oliver), Vogelzangs, N. (Nicole), Vollenweider, P. (Peter), Waeber, G. (Gérard), Wareham, N.J. (Nick), Waterworth, D. (Dawn), Whitfield, J.B. (John), Wichmann, E.H. (Erich), Willemsen, G.A.H.M. (Gonneke), Witteman, J.C.M. (Jacqueline), Yuan, X. (Xin), Zhai, G. (Guangju), Zhao, J.H. (Jing Hua), Zhang, W. (Weihua), Martin, N.G. (Nicholas), Metspalu, A. (Andres), Doering, A. (Angela), Scott, J. (James), Spector, T.D. (Timothy), Loos, R.J.F. (Ruth), Boomsma, D.I. (Dorret), Mooser, V. (Vincent), Peltonen, L. (Leena Johanna), Stefansson, K. (Kari), Tikka-Kleemola, P. (Päivi), Vineis, P. (Paolo), Sommer, W.H. (Wolfgang), Kooner, J.S. (Jaspal), Spanagel, R. (Rainer), Heberlein, U.A. (Ulrike), Järvelin, M.R., Elliott, P. (Paul), Aulchenko, Y.S. (Yurii), and Bakker, S.J.L. (Stephan)
Abstract: Alcohol consumption is a moderately heritable trait, but the genetic basis in humans is largely unknown, despite its clinical and societal importance. We report a genome-wide association study meta-analysis of ∼2.5 million directly genotyped or imputed SNPs with alcohol consumption (gram per day per kilogram body weight) among 12 population-based samples of European ancestry, comprising 26,316 individuals, with replication genotyping in an additional 21,185 individuals. SNP rs6943555 in autism susceptibility candidate 2 gene (AUTS2) was associated with alcohol consumption at genome-wide significance (P = 4 x 10-8to P = 4 x 10-9). We found a genotype-specific expression of AUTS2 in 96 human prefrontal cortex samples (P = 0.026) and significant (P < 0.017) differences in expression of AUTS2 in whole-brain extracts of mice selected for differences in voluntary alcohol consumption. Downregulation of an AUTS2 homolog caused reduced alcohol sensitivity in Drosophila (P < 0.001). Our finding of a regulator of alcohol consumption adds knowledge to our understanding of genetic mech
Published: 2011
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20. Separating the mechanism-based and off-target actions of cholesteryl ester transfer protein inhibitors with CETP gene polymorphisms

Author: Sofat, R. (Reecha), Hingorani, A. (Aroon), Smeeth, L. (Liam), Humphries, S.E. (Steve), Talmud, P.J., Cooper, J. (Jim), Shah, T. (Tina), Sandhu, M.S. (Manjinder), Ricketts, S.L. (Sally), Boekholdt, S.M. (Matthijs), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Kumari, M. (Meena), Kivimaki, M. (Mika), Marmot, M. (Michael), Asselbergs, F.W. (Folkert), Harst, P. (Pim) van der, Dullaart, R.P.F. (Robin), Navis, G. (Gerjan), Veldhuisen, D.J. (Dirk) van, Gilst, W.H. (Wiek) van, Thompson, J.F. (John), McCaskie, P. (Pamela), Palmer, C. (Cameron), Arca, M. (Marcello), Quagliarini, F. (Fabiana), Gaudio, C. (Carlo), Cambien, F. (François), Nicaud, V., Poirer, O. (Odette), Gudnason, V. (Vilmundur), Isaacs, A.J. (Aaron), Witteman, J.C.M. (Jacqueline), Tikka-Kleemola, P. (Päivi), Pencina, M. (Michael), Vasan, R.S. (Ramachandran Srini), D'Agostino, R.B. (Ralph), Ordovas, J.M. (Jose), Li, T.Y. (Tricia), Kakko, S. (Sakari), Kauma, H. (Heikki), Savolainen, M.J. (Markku), Kesäniemi, Y.A. (Antero), Sandhofer, A. (Anton), Paulweber, B. (Bernhard), Sorli, J.V. (Jose), Goto, A. (Akimoto), Yokoyama, S. (Shinji), Okumura, K. (Kenji), Horne, B.D. (Benjamin), Packard, C. (Chris), Freeman, D. (Dilys), Ford, I. (Ian), Sattar, N. (Naveed), McCormack, V. (Valerie), Lawlor, D.A. (Debbie), Ebrahim, S. (Shanil), Smith, A.V. (Davey), Kastelein, J.J.P. (John), Deanfield, J. (John), Casas, J.P. (Juan), Sofat, R. (Reecha), Hingorani, A. (Aroon), Smeeth, L. (Liam), Humphries, S.E. (Steve), Talmud, P.J., Cooper, J. (Jim), Shah, T. (Tina), Sandhu, M.S. (Manjinder), Ricketts, S.L. (Sally), Boekholdt, S.M. (Matthijs), Wareham, N.J. (Nick), Khaw, K-T. (Kay-Tee), Kumari, M. (Meena), Kivimaki, M. (Mika), Marmot, M. (Michael), Asselbergs, F.W. (Folkert), Harst, P. (Pim) van der, Dullaart, R.P.F. (Robin), Navis, G. (Gerjan), Veldhuisen, D.J. (Dirk) van, Gilst, W.H. (Wiek) van, Thompson, J.F. (John), McCaskie, P. (Pamela), Palmer, C. (Cameron), Arca, M. (Marcello), Quagliarini, F. (Fabiana), Gaudio, C. (Carlo), Cambien, F. (François), Nicaud, V., Poirer, O. (Odette), Gudnason, V. (Vilmundur), Isaacs, A.J. (Aaron), Witteman, J.C.M. (Jacqueline), Tikka-Kleemola, P. (Päivi), Pencina, M. (Michael), Vasan, R.S. (Ramachandran Srini), D'Agostino, R.B. (Ralph), Ordovas, J.M. (Jose), Li, T.Y. (Tricia), Kakko, S. (Sakari), Kauma, H. (Heikki), Savolainen, M.J. (Markku), Kesäniemi, Y.A. (Antero), Sandhofer, A. (Anton), Paulweber, B. (Bernhard), Sorli, J.V. (Jose), Goto, A. (Akimoto), Yokoyama, S. (Shinji), Okumura, K. (Kenji), Horne, B.D. (Benjamin), Packard, C. (Chris), Freeman, D. (Dilys), Ford, I. (Ian), Sattar, N. (Naveed), McCormack, V. (Valerie), Lawlor, D.A. (Debbie), Ebrahim, S. (Shanil), Smith, A.V. (Davey), Kastelein, J.J.P. (John), Deanfield, J. (John), and Casas, J.P. (Juan)
Abstract: Background: Cholesteryl ester transfer protein (CETP) inhibitors raise high-density lipoprotein (HDL) cholesterol, but torcetrapib, the first-in-class inhibitor tested in a large outcome trial, caused an unexpected blood pressure elevation and increased cardiovascular events. Whether the hypertensive effect resulted from CETP inhibition or an off-target action of torcetrapib has been debated. We hypothesized that common single-nucleotide polymorphisms in the CETP gene could help distinguish mechanism-based from off-target actions of CETP inhibitors to inform on the validity of CETP as a therapeutic target. Methods and Results: We compared the effect of CETP single-nucleotide polymorphisms and torcetrapib treatment on lipid fractions, blood pressure, and electrolytes in up to 67 687 individuals from genetic studies and 17 911 from randomized trials. CETP single-nucleotide polymorphisms and torcetrapib treatment reduced CETP activity and had a directionally concordant effect on 8 lipid and lipoprotein traits (total, low-density lipoprotein, and HDL cholesterol; HDL2; HDL3; apolipoproteins A-I and B; and triglycerides), with the genetic effect on HDL cholesterol (0.13 mmol/L, 95% confidence interval [CI] 0.11 to 0.14 mmol/L) being consistent with that expected of a 10-mg dose of torcetrapib (0.13 mmol/L, 95% CI 0.10 to 0.15). In trials, 60 mg of torcetrapib elevated systolic and diastolic blood pressure by 4.47 mm Hg (95% CI 4.10 to 4.84 mm Hg) and 2.08 mm Hg (95% CI 1.84 to 2.31 mm Hg), respectively. However, the effect of CETP single-nucleotide polymorphisms on systolic blood pressure (0.16 mm Hg, 95% CI-0.28 to 0.60 mm Hg) and diastolic blood pressure (-0.04 mm Hg, 95% CI-0.36 to 0.28 mm Hg) was null and significantly different from that expected of 10 mg of torcetrapib. Conclusions: Discordance in the effects of CETP single-nucleotide polymorphisms and torcetrapib treatment on blood pressure despite the concordant effects on lipids indicates the hypertensive action
Published: 2010
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21. Effects of dietary sodium and hydrochlorothiazide on the antiproteinuric efficacy of losartan

Author: Vogt, L. (Liffert), Waanders, F. (Femke), Boomsma, F. (Frans), Zeeuw, D. (Dick) de, Navis, G. (Gerjan), Vogt, L. (Liffert), Waanders, F. (Femke), Boomsma, F. (Frans), Zeeuw, D. (Dick) de, and Navis, G. (Gerjan)
Abstract: There is large interindividual variability in the antiproteinuric response to blockade of the renin-angiotensin-aldosterone system (RAAS). A low-sodium diet or addition of diuretics enhances the effects of RAAS blockade on proteinuria and BP, but the efficacy of the combination of these interventions is unknown. Therefore, this randomized, double-blind, placebo-controlled trial to determine the separate and combined effects of a low-sodium diet and hydrochlorothiazide (HCT) on proteinuria and BP was performed. In 34 proteinuric patients without diabetes, mean baseline proteinuria was 3.8 g/d, and this was reduced by 22% by a low-sodium diet alone. Losartan monotherapy reduced proteinuria by 30%, and the addition of a low-sodium diet led to a total reduction by 55% and the addition of HCT to 56%. The combined addition of HCT and a low-sodium diet reduced proteinuria by 70% from baseline (all P < 0.05). Reductions in mean arterial pressure showed a similar pattern (all P < 0.05). In addition, individuals who did not demonstrate an antiproteinuric response to losartan monotherapy did respond when a low-sodium diet or a diuretic was added. In conclusion, a low-sodium diet and HCT are equally efficacious in reducing proteinuria and BP when added to a regimen containing losartan and especially seem to benefit individuals who are resistant to RAAS blockade. Combining these interventions in sodium status is an effective method to maximize the antiproteinuric efficacy of RAAS blockade. Copyright
Published: 2008
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21 results on '"Navis, G. (Gerjan)"'

1. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

2. Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

3. Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity

4. Sex differences in renin-angiotensin-aldosterone system affect extracellular volume in healthy subjects

5. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation

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

7. Genetic loci associated with heart rate variability and their effects on cardiac disease risk

8. Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram

9. Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

10. Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, global BPgen, and ICBP consortia

11. Susceptibility to chronic mucus hypersecretion, a genome wide association study

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

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

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

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

16. Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation

17. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

18. A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

19. Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

20. Separating the mechanism-based and off-target actions of cholesteryl ester transfer protein inhibitors with CETP gene polymorphisms

21. Effects of dietary sodium and hydrochlorothiazide on the antiproteinuric efficacy of losartan

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