8 results on '"Li, J. (Jin)"'
Search Results
2. Approved CAR T cell therapies
- Author
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Zheng, P.P. (Pingpin), Kros, J.M. (Johan), Li, J. (Jin), Zheng, P.P. (Pingpin), Kros, J.M. (Johan), and Li, J. (Jin)
- Abstract
Two autologous chimeric antigen receptor (CAR) T cell therapies (Kymriah™ and Yescarta™) were recently approved by the FDA. Kymriah™ is for the treatment of pediatric patients and young adults with refractory or relapse (R/R) B cell precursor acute lym
- Published
- 2018
- Full Text
- View/download PDF
3. Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis
- Author
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Rooij, F.J.A. (Frank) van, Qayyum, Q. (Rehan), Smith, A.V. (Albert Vernon), Zhou, Y. (Yi), Trompet, S. (Stella), Tanaka, T. (Toshiko), Keller, M.F. (Margaux), Chang, L.-C. (Li-Ching), Schmidt, H. (Helena), Yang, M.-L. (Min-Lee), Chen, M.-H. (Ming-Huei), Hayes, J. (James), Johnson, A.D. (Andrew), Yanek, L.R. (Lisa), Mueller, C. (Christian), Lange, L.A. (Leslie), Floyd, J. (James), Ghanbari, M. (Mohsen), Zonderman, A.B., Jukema, J.W., Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Desch, K.C. (Karl C.), Saba, Y. (Yasaman), Ozel, A.B. (Ayse), Snively, B.M. (Beverly M.), Wu, J.-Y. (Jer-Yuarn), Schmidt, R. (Reinhold), Fornage, M. (Myriam), Klein, R.J. (Robert J.), Fox, C.S. (Caroline), Matsuda, K. (Koichi), Kamatani, N. (Naoyuki), Wild, P.S. (Philipp S.), Stott, D.J. (David J.), Ford, I., Slagboom, P.E. (Eline), Yang, J. (Jaden), Chu, A.Y. (Audrey Y), Lambert, A.J. (Amy J.), Uitterlinden, A.G. (André), Franco, O.H. (Oscar), Hofer, E. (Edith), Ginsburg, D. (David), Hu, B. (Bella), Keating, J. (John), Schick, U.M. (Ursula), Brody, J.A. (Jennifer A.), Li, J.Z. (Jun Z.), Chen, Z. (Zhao), Zeller, T. (Tanja), Guralnik, J.M. (Jack M.), Chasman, D.I. (Daniel), Peters, L.L. (Luanne L.), Kubo, M. (Michiaki), Becker, D.M. (Diane M.), Li, J. (Jin), Eiriksdottir, G. (Gudny), Rotter, J.I. (Jerome I.), Levy, D. (Daniel), Grossmann, V. (Vera), Patel, K.V. (Kushang V.), Chen, C.-H., Ridker, P.M. (Paul M.), Tang, H. (Hua), Launer, L.J. (Lenore), Rice, K.M. (Kenneth M.), Li-Gao, R. (Ruifang), Ferrucci, L. (Luigi), Evans, M.K. (Michelle K.), Choudhuri, A. (Avik), Trompouki, E. (Eirini), Abraham, B.J. (Brian J.), Yang, S. (Song), Takahashi, A. (Atsushi), Kamatani, Y. (Yoichiro), Kooperberg, C. (Charles), Harris, T.B. (Tamara), Jee, S.H. (Sun Ha), Coresh, J. (Josef), Tsai, F.-J. (Fuu-Jen), Longo, D.L. (Dan L.), Chen, Y.-T. (Yuan-Tsong), Felix, J.F. (Janine), Yang, Q. (Qiong), Psaty, B.M. (Bruce), Boerwinkle, E.A. (Eric), Becker, L.C. (Lewis C.), Mook-Kanamori, D.O. (Dennis), Wilson, J.F. (James), Gudnason, V. (Vilmundur), O'Donnell, C.J. (Christopher J.), Dehghan, A. (Abbas), Cupples, L.A. (Adrienne), Nalls, M.A. (Michael), Morris, A.P. (Andrew), Okada, Y. (Yukinori), Reiner, A.P. (Alexander P.), Zon, L.I. (Leonard), Ganesh, S.K. (Santhi), Rooij, F.J.A. (Frank) van, Qayyum, Q. (Rehan), Smith, A.V. (Albert Vernon), Zhou, Y. (Yi), Trompet, S. (Stella), Tanaka, T. (Toshiko), Keller, M.F. (Margaux), Chang, L.-C. (Li-Ching), Schmidt, H. (Helena), Yang, M.-L. (Min-Lee), Chen, M.-H. (Ming-Huei), Hayes, J. (James), Johnson, A.D. (Andrew), Yanek, L.R. (Lisa), Mueller, C. (Christian), Lange, L.A. (Leslie), Floyd, J. (James), Ghanbari, M. (Mohsen), Zonderman, A.B., Jukema, J.W., Hofman, A. (Albert), Duijn, C.M. (Cornelia) van, Desch, K.C. (Karl C.), Saba, Y. (Yasaman), Ozel, A.B. (Ayse), Snively, B.M. (Beverly M.), Wu, J.-Y. (Jer-Yuarn), Schmidt, R. (Reinhold), Fornage, M. (Myriam), Klein, R.J. (Robert J.), Fox, C.S. (Caroline), Matsuda, K. (Koichi), Kamatani, N. (Naoyuki), Wild, P.S. (Philipp S.), Stott, D.J. (David J.), Ford, I., Slagboom, P.E. (Eline), Yang, J. (Jaden), Chu, A.Y. (Audrey Y), Lambert, A.J. (Amy J.), Uitterlinden, A.G. (André), Franco, O.H. (Oscar), Hofer, E. (Edith), Ginsburg, D. (David), Hu, B. (Bella), Keating, J. (John), Schick, U.M. (Ursula), Brody, J.A. (Jennifer A.), Li, J.Z. (Jun Z.), Chen, Z. (Zhao), Zeller, T. (Tanja), Guralnik, J.M. (Jack M.), Chasman, D.I. (Daniel), Peters, L.L. (Luanne L.), Kubo, M. (Michiaki), Becker, D.M. (Diane M.), Li, J. (Jin), Eiriksdottir, G. (Gudny), Rotter, J.I. (Jerome I.), Levy, D. (Daniel), Grossmann, V. (Vera), Patel, K.V. (Kushang V.), Chen, C.-H., Ridker, P.M. (Paul M.), Tang, H. (Hua), Launer, L.J. (Lenore), Rice, K.M. (Kenneth M.), Li-Gao, R. (Ruifang), Ferrucci, L. (Luigi), Evans, M.K. (Michelle K.), Choudhuri, A. (Avik), Trompouki, E. (Eirini), Abraham, B.J. (Brian J.), Yang, S. (Song), Takahashi, A. (Atsushi), Kamatani, Y. (Yoichiro), Kooperberg, C. (Charles), Harris, T.B. (Tamara), Jee, S.H. (Sun Ha), Coresh, J. (Josef), Tsai, F.-J. (Fuu-Jen), Longo, D.L. (Dan L.), Chen, Y.-T. (Yuan-Tsong), Felix, J.F. (Janine), Yang, Q. (Qiong), Psaty, B.M. (Bruce), Boerwinkle, E.A. (Eric), Becker, L.C. (Lewis C.), Mook-Kanamori, D.O. (Dennis), Wilson, J.F. (James), Gudnason, V. (Vilmundur), O'Donnell, C.J. (Christopher J.), Dehghan, A. (Abbas), Cupples, L.A. (Adrienne), Nalls, M.A. (Michael), Morris, A.P. (Andrew), Okada, Y. (Yukinori), Reiner, A.P. (Alexander P.), Zon, L.I. (Leonard), and Ganesh, S.K. (Santhi)
- Abstract
Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPM
- Published
- 2017
- Full Text
- View/download PDF
4. Rare and low-frequency coding variants alter human adult height
- Author
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Marouli, E. (Eirini), Graff, M.J. (Maud J.L.), Medina-Gomez, C. (Carolina), Lo, K.S., Wood, A.R. (Andrew), Kjaer, T.R. (Troels R.), Fine, R.S. (Rebecca S.), Lu, Y. (Yingchang), Schurmann, C. (Claudia), Highland, H. (Heather), Rüeger, S. (Sina), Thorleifsson, G. (Gudmar), Justice, A.E. (Anne), Lamparter, D. (David), Stirrups, K. (Kathy), Turcot, V. (Valérie), Young, K.L. (Kristin L.), Winkler, T.W. (Thomas W.), Esko, T. (Tõnu), Karaderi, T. (Tugce), Locke, A. (Adam), Masca, N.G.D. (Nicholas G.D.), Ng, M.C.Y. (Maggie C.Y.), Mudgal, P. (Poorva), Rivas, M.A. (Manuel), Vedantam, S. (Sailaja), Mahajan, A. (Anubha), Guo, X. (Xiuqing), Abecasis, G.R. (Gonçalo), Aben, K.K.H. (Katja), Adair, L.S. (Linda), Alam, D.S. (Dewan S.), Albrecht, E. (Eva), Allin, K.H. (Kristine H), Allison, M.A. (Matthew), Amouyel, P. (Philippe), Appel, E.V. (Emil V.), Arveiler, D. (Dominique), Asselbergs, F.W. (Folkert), Auer, P. (Paul), Balkau, B. (Beverley), Banas, B. (Bernhard), Bang, L.E. (Lia E.), Benn, M. (Marianne), Bergmann, S. (Sven), Bielak, L.F. (Lawrence F.), Blüher, M. (Matthias), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Böger, C.A. (Carsten), Bonnycastle, L.L. (Lori), Bork-Jensen, J. (Jette), Bots, M.L. (Michiel), Bottinger, E.P. (Erwin), Bowden, D.W. (Donald), Brandslund, I. (Ivan), Breen, G. (Gerome), Brilliant, M.H. (Murray H.), Broer, L. (Linda), Burt, A.D. (Alastair), Butterworth, A.S. (Adam), Carey, D.J. (David J.), Caulfield, M. (Mark), Chambers, J.C. (John), Chasman, D.I. (Daniel), Chen, Y.-D.I. (Yii-Der Ida), Chowdhury, R. (Rajiv), Christensen, C. (Cramer), Chu, A.Y. (Audrey), Cocca, M. (Massimiliano), Collins, F.S. (Francis), Cook, J.P. (James P.), Corley, J. (Janie), Galbany, J.C. (Jordi Corominas), Cox, A.J. (Amanda J.), Cuellar-Partida, G. (Gabriel), Danesh, J. (John), Davies, G. (Gail), Bakker, P.I.W. (Paul) de, Borst, G.J. (Gert) de, De Denus, S. (Simon), De Groot, M.C.H. (Mark C.H.), Mutsert, R. (Reneé) de, Deary, I.J. (Ian), Dedoussis, G.V. (George), Demerath, E.W. (Ellen), Hollander, A.I. (Anneke), Dennis, J. (Joe), Angelantonio, E. (Emanuele) di, Drenos, F. (Fotios), Du, M. (Mengmeng), Dunning, A.M. (Alison M.), Easton, D.F. (Douglas), Ebeling, T. (Tapani), Edwards, T.L. (Todd L.), Ellinor, P.T. (Patrick), Elliott, P. (Paul), Evangelou, E. (Evangelos), Farmaki, A.-E. (Aliki-Eleni), Faul, J.D. (Jessica D.), Feitosa, M.F. (Mary Furlan), Feng, S. (Shuang), Ferrannini, E. (Ele), Ferrario, M.M. (Marco M.), Ferrieres, J. (Jean), Florez, J.C. (Jose), Ford, I., Fornage, M. (Myriam), Franks, P.W. (Paul), Frikke-Schmidt, R. (Ruth), Galesloot, T.E. (Tessel), Gan, W. (Wei), Gandin, I. (Ilaria), Gasparini, P. (Paolo), Giedraitis, V. (Vilmantas), Giri, A. (Ayush), Girotto, S., Gordon, S.D. (Scott D.), Gordon-Larsen, P. (Penny), Gorski, M. (Mathias), Grarup, N. (Niels), Grove, M.L. (Megan), Gudnason, V. (Vilmundur), Gustafsson, S. (Stefan), Hansen, T. (T.), Harris, K.M. (Kathleen Mullan), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayward, C. (Caroline), He, L. (Liang), Heid, I.M. (Iris), Heikkilä, K. (Kauko), Helgeland, Ø. (Øyvind), Hernesniemi, J. (Jussi), Hewit, A.W. (Alex), Hocking, L.J. (Lynne), Hollensted, M. (Mette), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Howson, J.M.M. (Joanna M.M.), Hoyng, C.B. (Carel), Huang, P.L. (Paul L.), Hveem, K. (Kristian), Ikram, M.K. (Kamran), Ingelsson, E. (Erik), Jackson, A.U. (Anne), Jansson, J.-H. (Jan-Håkan), Jarvik, G.P. (Gail), Jensen, G.B. (Gorm B.), Jhun, M.A. (Min A.), Jia, Y. (Yucheng), Jiang, X. (Xuejuan), Johansson, S. (Stefan), Jørgensen, M.E. (Marit E.), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jukema, J.W. (Jan Wouter), Kahali, B. (Bratati), Kahn, R. (René), Kähönen, M. (Mika), Kamstrup, P.R. (Pia R.), Kanoni, S. (Stavroula), Kaprio, J. (Jaakko), Karaleftheri, M. (Maria), Kardia, S.L.R. (Sharon L.R.), Karpe, F. (Fredrik), Kee, F. (Frank), Keeman, J.N., Kiemeney, L.A.L.M. (Bart), Kitajima, H. (Hidetoshi), Kluivers, K.B. (Kirsten B.), Kocher, T., Komulainen, P. (Pirjo), Kontto, J. (Jukka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kriebel, J. (Jennifer), Kuivaniemi, H. (Helena), Küry, S. (Sébastien), Kuusisto, J. (Johanna), La Bianca, M. (Martina), Laakso, M. (Markku), Lakka, T.A. (Timo), Lange, E.M. (Ethan), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Larson, E.B. (Eric B.), Lee, I.-T. (I-Te), Lehtimäki, T. (Terho), Lewis, C.E. (Cora E.), Li, H. (Huaixing), Li, J. (Jin), Li-Gao, R. (Ruifang), Lin, H. (Honghuang), Lin, L.-A. (Li-An), Lin, X. (Xu), Kao, W.H.L. (Wen), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y. (Yeheng), Liu, Y. (YongMei), Lophatananon, A. (Artitaya), Luan, J. (Jian'An), Lubitz, S.A. (Steven), Lyytikäinen, L.-P. (Leo-Pekka), Mackey, D.A. (David A.), Madden, P.A. (Pamela), Manning, A.K. (Alisa), Männistö, S. (Satu), Marenne, G. (Gaëlle), Marten, J. (Jonathan), Martin, N.G. (Nicholas), Mazul, A.L. (Angela L.), Meidtner, K. (Karina), Metspalu, A. (Andres), Mitchell, P. (Paul), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (Dennis), Morgan, A. (Anna), Morris, A.D. (Andrew D.), Morris, A.P. (Andrew), Müller-Nurasyid, M. (Martina), Munroe, P. (Patricia), Nalls, M.A. (Michael), Nauck, M. (Matthias), Nelson, C.P. (Christopher P.), Neville, M.J. (Matthew), Nielsen, S.F. (Sune), Nikus, K. (Kjell), Njolstad, P. (Pal), Nordestgaard, B.G. (Børge), Ntalla, I. (Ioanna), O'Connel, J.R. (Jeffrey R.), Oksa, H. (Heikki), Loohuis, L.M.O. (Loes M. Olde), Ophoff, R.A. (Roel), Owen, K.R. (Katharine R.), Packard, C.J. (Chris J.), Padmanabhan, S. (Sandosh), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Patel, A.P. (Aniruddh), Pattie, A. (Alison), Pedersen, O. (Oluf), Peissig, P.L. (Peggy L.), Peloso, G.M. (Gina), Pennell, C.E. (Craig), Perola, M. (Markus), Perry, J.A. (James A.), Perry, J.R.B. (John R.B.), Person, A.D. (Anthony), Pirie, A. (Ailith), Polasek, O. (Ozren), Posthuma, D. (Danielle), Raitakari, O.T. (Olli T.), Rasheed, A. (Asif), Rauramaa, R. (Rainer), Reilly, D.F. (Dermot F.), Reiner, A. (Alexander), Renström, F. (Frida), Ridker, P.M. (Paul), Rioux, J.D. (John), Robertson, N.R. (Neil), Robino, A. (Antonietta), Rolandsson, O. (Olov), Rudan, I. (Igor), Ruth, K.S. (Katherine S.), Saleheen, D. (Danish), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Sandow, K. (Kevin), Sapkota, Y. (Yadav), Sattar, N. (Naveed), Schmidt, M.K. (Marjanka), Schreiner, P.J. (Pamela), Schulze, M.B. (Matthias B), Scott, R.A. (Robert), Segura-Lepe, M.P. (Marcelo P.), Shah, S.H. (Svati), Sim, X. (Xueling), Sivapalaratnam, S. (Suthesh), Small, K.S. (Kerrin), Smith, A.V. (Albert Vernon), Smith, J.A. (Jennifer A), Southam, L. (Lorraine), Spector, T.D. (Timothy), Speliotes, E.K. (Elizabeth K.), Starr, J.M. (John), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Stumvoll, M. (Michael), Surendran, P. (Praveen), Hart't, L.M. (Leen M.), Tansey, K.E. (Katherine E.), Tardif, J.-C. (Jean-Claude), Taylor, K.D. (Kent), Teumer, A. (Alexander), Thompson, D. (Deborah), Thorsteinsdottir, U. (Unnur), Thuesen, B.H. (Betina H.), Tönjes, A. (Anke), Tromp, G. (Gerard), Trompet, S. (Stella), Tsafantakis, E. (Emmanouil), Tuomilehto, J. (Jaakko), Tybjaerg-Hansen, A. (Anne), Tyrer, J.P. (Jonathan), Uher, R., Uitterlinden, A.G. (André), Ulivi, S. (Sheila), Van Der Laan, S.W. (Sander W.), Van Der Leij, A.R. (Andries R.), Duijn, C.M. (Cornelia) van, Schoor, N.M. (Natasja) van, Setten, J. (Jessica) van, Varbo, A. (Anette), Varga, T.V. (Tibor V.), Varma, R. (Rohit), Velez Edwards, D.R. (Digna R.), Vermeulen, S.H.H.M. (Sita), Vestergaard, H. (Henrik), Vitart, V. (Veronique), Vogt, T.F. (Thomas F.), Vozzi, D. (Diego), Walker, M. (Mark), Wang, F. (Feijie), Wang, C.A. (Carol A.), Wang, S. (Shuai), Wang, Y. (Yiqin), Wareham, N.J. (Nicholas J.), Warren, H. (Helen), Wessel, J. (Jennifer), Willems, S.M. (Sara), Wilson, J.F. (James), Witte, D.R. (Deniel), Woods, M.O. (Michael), Wu, Y. (Ying), Yaghootkar, H. (Hanieh), Yao, J. (Jiefen), Yao, P. (Pang), Yerges-Armstrong, L.M. (Laura), Young, R. (Robin), Zeggini, E. (Eleftheria), Zhan, X. (Xiaowei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zhao, W. (Wei), Zheng, H. (He), Zhou, W. (Wei), Rotter, J.I. (Jerome I.), Boehnke, M. (Michael), Kathiresan, S. (Sekar), McCarthy, M.I. (Mark I.), Willer, C.J. (Cristen), Zwart, J-A. (John-Anker), Borecki, I.B. (Ingrid), Liu, D. (Dajiang), North, K.E. (Kari), Heard-Costa, N.L. (Nancy), Pers, T.H. (Tune), Lindgren, C.M. (Cecilia M.), Oxvig, C. (Claus), Kutalik, Z. (Zoltán), Rivadeneira Ramirez, F. (Fernando), Loos, R.J.F. (Ruth), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Deloukas, P. (Panos), Lettre, G. (Guillaume), Marouli, E. (Eirini), Graff, M.J. (Maud J.L.), Medina-Gomez, C. (Carolina), Lo, K.S., Wood, A.R. (Andrew), Kjaer, T.R. (Troels R.), Fine, R.S. (Rebecca S.), Lu, Y. (Yingchang), Schurmann, C. (Claudia), Highland, H. (Heather), Rüeger, S. (Sina), Thorleifsson, G. (Gudmar), Justice, A.E. (Anne), Lamparter, D. (David), Stirrups, K. (Kathy), Turcot, V. (Valérie), Young, K.L. (Kristin L.), Winkler, T.W. (Thomas W.), Esko, T. (Tõnu), Karaderi, T. (Tugce), Locke, A. (Adam), Masca, N.G.D. (Nicholas G.D.), Ng, M.C.Y. (Maggie C.Y.), Mudgal, P. (Poorva), Rivas, M.A. (Manuel), Vedantam, S. (Sailaja), Mahajan, A. (Anubha), Guo, X. (Xiuqing), Abecasis, G.R. (Gonçalo), Aben, K.K.H. (Katja), Adair, L.S. (Linda), Alam, D.S. (Dewan S.), Albrecht, E. (Eva), Allin, K.H. (Kristine H), Allison, M.A. (Matthew), Amouyel, P. (Philippe), Appel, E.V. (Emil V.), Arveiler, D. (Dominique), Asselbergs, F.W. (Folkert), Auer, P. (Paul), Balkau, B. (Beverley), Banas, B. (Bernhard), Bang, L.E. (Lia E.), Benn, M. (Marianne), Bergmann, S. (Sven), Bielak, L.F. (Lawrence F.), Blüher, M. (Matthias), Boeing, H. (Heiner), Boerwinkle, E.A. (Eric), Böger, C.A. (Carsten), Bonnycastle, L.L. (Lori), Bork-Jensen, J. (Jette), Bots, M.L. (Michiel), Bottinger, E.P. (Erwin), Bowden, D.W. (Donald), Brandslund, I. (Ivan), Breen, G. (Gerome), Brilliant, M.H. (Murray H.), Broer, L. (Linda), Burt, A.D. (Alastair), Butterworth, A.S. (Adam), Carey, D.J. (David J.), Caulfield, M. (Mark), Chambers, J.C. (John), Chasman, D.I. (Daniel), Chen, Y.-D.I. (Yii-Der Ida), Chowdhury, R. (Rajiv), Christensen, C. (Cramer), Chu, A.Y. (Audrey), Cocca, M. (Massimiliano), Collins, F.S. (Francis), Cook, J.P. (James P.), Corley, J. (Janie), Galbany, J.C. (Jordi Corominas), Cox, A.J. (Amanda J.), Cuellar-Partida, G. (Gabriel), Danesh, J. (John), Davies, G. (Gail), Bakker, P.I.W. (Paul) de, Borst, G.J. (Gert) de, De Denus, S. (Simon), De Groot, M.C.H. (Mark C.H.), Mutsert, R. (Reneé) de, Deary, I.J. (Ian), Dedoussis, G.V. (George), Demerath, E.W. (Ellen), Hollander, A.I. (Anneke), Dennis, J. (Joe), Angelantonio, E. (Emanuele) di, Drenos, F. (Fotios), Du, M. (Mengmeng), Dunning, A.M. (Alison M.), Easton, D.F. (Douglas), Ebeling, T. (Tapani), Edwards, T.L. (Todd L.), Ellinor, P.T. (Patrick), Elliott, P. (Paul), Evangelou, E. (Evangelos), Farmaki, A.-E. (Aliki-Eleni), Faul, J.D. (Jessica D.), Feitosa, M.F. (Mary Furlan), Feng, S. (Shuang), Ferrannini, E. (Ele), Ferrario, M.M. (Marco M.), Ferrieres, J. (Jean), Florez, J.C. (Jose), Ford, I., Fornage, M. (Myriam), Franks, P.W. (Paul), Frikke-Schmidt, R. (Ruth), Galesloot, T.E. (Tessel), Gan, W. (Wei), Gandin, I. (Ilaria), Gasparini, P. (Paolo), Giedraitis, V. (Vilmantas), Giri, A. (Ayush), Girotto, S., Gordon, S.D. (Scott D.), Gordon-Larsen, P. (Penny), Gorski, M. (Mathias), Grarup, N. (Niels), Grove, M.L. (Megan), Gudnason, V. (Vilmundur), Gustafsson, S. (Stefan), Hansen, T. (T.), Harris, K.M. (Kathleen Mullan), Harris, T.B. (Tamara), Hattersley, A.T. (Andrew), Hayward, C. (Caroline), He, L. (Liang), Heid, I.M. (Iris), Heikkilä, K. (Kauko), Helgeland, Ø. (Øyvind), Hernesniemi, J. (Jussi), Hewit, A.W. (Alex), Hocking, L.J. (Lynne), Hollensted, M. (Mette), Holmen, O.L. (Oddgeir), Hovingh, G.K. (Kees), Howson, J.M.M. (Joanna M.M.), Hoyng, C.B. (Carel), Huang, P.L. (Paul L.), Hveem, K. (Kristian), Ikram, M.K. (Kamran), Ingelsson, E. (Erik), Jackson, A.U. (Anne), Jansson, J.-H. (Jan-Håkan), Jarvik, G.P. (Gail), Jensen, G.B. (Gorm B.), Jhun, M.A. (Min A.), Jia, Y. (Yucheng), Jiang, X. (Xuejuan), Johansson, S. (Stefan), Jørgensen, M.E. (Marit E.), Jorgensen, T. (Torben), Jousilahti, P. (Pekka), Jukema, J.W. (Jan Wouter), Kahali, B. (Bratati), Kahn, R. (René), Kähönen, M. (Mika), Kamstrup, P.R. (Pia R.), Kanoni, S. (Stavroula), Kaprio, J. (Jaakko), Karaleftheri, M. (Maria), Kardia, S.L.R. (Sharon L.R.), Karpe, F. (Fredrik), Kee, F. (Frank), Keeman, J.N., Kiemeney, L.A.L.M. (Bart), Kitajima, H. (Hidetoshi), Kluivers, K.B. (Kirsten B.), Kocher, T., Komulainen, P. (Pirjo), Kontto, J. (Jukka), Kooner, J.S. (Jaspal S.), Kooperberg, C. (Charles), Kovacs, P. (Peter), Kriebel, J. (Jennifer), Kuivaniemi, H. (Helena), Küry, S. (Sébastien), Kuusisto, J. (Johanna), La Bianca, M. (Martina), Laakso, M. (Markku), Lakka, T.A. (Timo), Lange, E.M. (Ethan), Lange, L.A. (Leslie), Langefeld, C.D. (Carl), Langenberg, C. (Claudia), Larson, E.B. (Eric B.), Lee, I.-T. (I-Te), Lehtimäki, T. (Terho), Lewis, C.E. (Cora E.), Li, H. (Huaixing), Li, J. (Jin), Li-Gao, R. (Ruifang), Lin, H. (Honghuang), Lin, L.-A. (Li-An), Lin, X. (Xu), Kao, W.H.L. (Wen), Lindström, J. (Jaana), Linneberg, A. (Allan), Liu, Y. (Yeheng), Liu, Y. (YongMei), Lophatananon, A. (Artitaya), Luan, J. (Jian'An), Lubitz, S.A. (Steven), Lyytikäinen, L.-P. (Leo-Pekka), Mackey, D.A. (David A.), Madden, P.A. (Pamela), Manning, A.K. (Alisa), Männistö, S. (Satu), Marenne, G. (Gaëlle), Marten, J. (Jonathan), Martin, N.G. (Nicholas), Mazul, A.L. (Angela L.), Meidtner, K. (Karina), Metspalu, A. (Andres), Mitchell, P. (Paul), Mohlke, K.L. (Karen), Mook-Kanamori, D.O. (Dennis), Morgan, A. (Anna), Morris, A.D. (Andrew D.), Morris, A.P. (Andrew), Müller-Nurasyid, M. (Martina), Munroe, P. (Patricia), Nalls, M.A. (Michael), Nauck, M. (Matthias), Nelson, C.P. (Christopher P.), Neville, M.J. (Matthew), Nielsen, S.F. (Sune), Nikus, K. (Kjell), Njolstad, P. (Pal), Nordestgaard, B.G. (Børge), Ntalla, I. (Ioanna), O'Connel, J.R. (Jeffrey R.), Oksa, H. (Heikki), Loohuis, L.M.O. (Loes M. Olde), Ophoff, R.A. (Roel), Owen, K.R. (Katharine R.), Packard, C.J. (Chris J.), Padmanabhan, S. (Sandosh), Palmer, C.N.A. (Colin), Pasterkamp, G. (Gerard), Patel, A.P. (Aniruddh), Pattie, A. (Alison), Pedersen, O. (Oluf), Peissig, P.L. (Peggy L.), Peloso, G.M. (Gina), Pennell, C.E. (Craig), Perola, M. (Markus), Perry, J.A. (James A.), Perry, J.R.B. (John R.B.), Person, A.D. (Anthony), Pirie, A. (Ailith), Polasek, O. (Ozren), Posthuma, D. (Danielle), Raitakari, O.T. (Olli T.), Rasheed, A. (Asif), Rauramaa, R. (Rainer), Reilly, D.F. (Dermot F.), Reiner, A. (Alexander), Renström, F. (Frida), Ridker, P.M. (Paul), Rioux, J.D. (John), Robertson, N.R. (Neil), Robino, A. (Antonietta), Rolandsson, O. (Olov), Rudan, I. (Igor), Ruth, K.S. (Katherine S.), Saleheen, D. (Danish), Salomaa, V. (Veikko), Samani, N.J. (Nilesh), Sandow, K. (Kevin), Sapkota, Y. (Yadav), Sattar, N. (Naveed), Schmidt, M.K. (Marjanka), Schreiner, P.J. (Pamela), Schulze, M.B. (Matthias B), Scott, R.A. (Robert), Segura-Lepe, M.P. (Marcelo P.), Shah, S.H. (Svati), Sim, X. (Xueling), Sivapalaratnam, S. (Suthesh), Small, K.S. (Kerrin), Smith, A.V. (Albert Vernon), Smith, J.A. (Jennifer A), Southam, L. (Lorraine), Spector, T.D. (Timothy), Speliotes, E.K. (Elizabeth K.), Starr, J.M. (John), Steinthorsdottir, V. (Valgerdur), Stringham, H.M. (Heather), Stumvoll, M. (Michael), Surendran, P. (Praveen), Hart't, L.M. (Leen M.), Tansey, K.E. (Katherine E.), Tardif, J.-C. (Jean-Claude), Taylor, K.D. (Kent), Teumer, A. (Alexander), Thompson, D. (Deborah), Thorsteinsdottir, U. (Unnur), Thuesen, B.H. (Betina H.), Tönjes, A. (Anke), Tromp, G. (Gerard), Trompet, S. (Stella), Tsafantakis, E. (Emmanouil), Tuomilehto, J. (Jaakko), Tybjaerg-Hansen, A. (Anne), Tyrer, J.P. (Jonathan), Uher, R., Uitterlinden, A.G. (André), Ulivi, S. (Sheila), Van Der Laan, S.W. (Sander W.), Van Der Leij, A.R. (Andries R.), Duijn, C.M. (Cornelia) van, Schoor, N.M. (Natasja) van, Setten, J. (Jessica) van, Varbo, A. (Anette), Varga, T.V. (Tibor V.), Varma, R. (Rohit), Velez Edwards, D.R. (Digna R.), Vermeulen, S.H.H.M. (Sita), Vestergaard, H. (Henrik), Vitart, V. (Veronique), Vogt, T.F. (Thomas F.), Vozzi, D. (Diego), Walker, M. (Mark), Wang, F. (Feijie), Wang, C.A. (Carol A.), Wang, S. (Shuai), Wang, Y. (Yiqin), Wareham, N.J. (Nicholas J.), Warren, H. (Helen), Wessel, J. (Jennifer), Willems, S.M. (Sara), Wilson, J.F. (James), Witte, D.R. (Deniel), Woods, M.O. (Michael), Wu, Y. (Ying), Yaghootkar, H. (Hanieh), Yao, J. (Jiefen), Yao, P. (Pang), Yerges-Armstrong, L.M. (Laura), Young, R. (Robin), Zeggini, E. (Eleftheria), Zhan, X. (Xiaowei), Zhang, W. (Weihua), Zhao, J.H. (Jing Hua), Zhao, W. (Wei), Zheng, H. (He), Zhou, W. (Wei), Rotter, J.I. (Jerome I.), Boehnke, M. (Michael), Kathiresan, S. (Sekar), McCarthy, M.I. (Mark I.), Willer, C.J. (Cristen), Zwart, J-A. (John-Anker), Borecki, I.B. (Ingrid), Liu, D. (Dajiang), North, K.E. (Kari), Heard-Costa, N.L. (Nancy), Pers, T.H. (Tune), Lindgren, C.M. (Cecilia M.), Oxvig, C. (Claus), Kutalik, Z. (Zoltán), Rivadeneira Ramirez, F. (Fernando), Loos, R.J.F. (Ruth), Frayling, T.M. (Timothy), Hirschhorn, J.N. (Joel), Deloukas, P. (Panos), and Lettre, G. (Guillaume)
- Abstract
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of I
- Published
- 2017
- Full Text
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5. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
- Author
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Chami, N. (Nathalie), Chen, M.-H. (Ming-Huei), Slater, A.J. (Andrew J.), Eicher, J.D. (John D.), Evangelou, E. (Evangelos), Tajuddin, S.M. (Salman M.), Love-Gregory, L. (Latisha), Kacprowski, T. (Tim), Schick, U.M. (Ursula), Nomura, A. (Akihiro), Giri, A. (Ayush), Lessard, S. (Samuel), Brody, J.A. (Jennifer A.), Schurmann, C. (Claudia), Pankratz, V.S. (Shane), Yanek, L.R. (Lisa), Manichaikul, A. (Ani), Pazoki, R. (Raha), Mihailov, E. (Evelin), Hill, W.D. (W. David), Raffield, L.M. (Laura M.), Burt, A.D. (Alastair), Bartz, T.M. (Traci M.), Becker, D.M. (Diane), Becker, L.C. (Lewis), Boerwinkle, E.A. (Eric), Bork-Jensen, J. (Jette), Bottinger, E.P. (Erwin), O'Donoghue, M.L. (Michelle L.), Crosslin, D.R. (David), de Denus, S. (Simon), Dubé, M.-P. (Marie-Pierre), Elliott, P. (Paul), Engström, G., Evans, M.K. (Michele), Floyd, J. (James), Fornage, M. (Myriam), Gao, H. (He), Greinacher, A. (Andreas), Gudnason, V. (Vilmundur), Hansen, T. (T.), Harris, T.B. (Tamara), Hayward, C. (Caroline), Hernesniemi, J. (Jussi), Highland, H. (Heather), Hirschhorn, J.N. (Joel), Hofman, A. (Albert), Irvin, M.R. (Marguerite R.), Kähönen, M. (Mika), Lange, E.M. (Ethan), Launer, L.J. (Lenore J.), Lehtimäki, T. (Terho), Li, J. (Jin), Liewald, D.C.M. (David), Linneberg, A. (Allan), Liu, Y. (YongMei), Lu, Y. (Yingchang), Lyytikäinen, L.-P. (Leo-Pekka), Mägi, R. (Reedik), Mathias, J. (Jasmine), Melander, O. (Olle), Metspalu, A. (Andres), Mononen, K. (Kari), Nalls, M.A. (Michael), Nickerson, D.A. (Deborah), Nikus, K. (Kjell), O'Donnell, C.J. (Christopher), Orho-Melander, M. (Marju), Pedersen, O. (Oluf), Petersmann, A. (Astrid), Polfus, L. (Linda), Psaty, B.M. (Bruce), Raitakari, O.T. (Olli T.), Raitoharju, E. (Emma), Richard, M. (Melissa), Rice, K.M. (Kenneth), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Schmidt, F. (Frank), Smith, A.V. (Albert Vernon), Starr, J.M. (John), Taylor, K.D. (Kent), Teumer, A. (Alexander), Thuesen, B.H. (Betina H.), Torstenson, E.S. (Eric S.), Tracy, R.P. (Russell), Tzoulaki, I., Zakai, N.A. (Neil), Vacchi-Suzzi, C. (Caterina), Duijn, C.M. (Cornelia) van, Rooij, F.J.A. (Frank) van, Cushman, M. (Mary Ann), Deary, I.J. (Ian), Velez Edwards, D.R. (Digna R.), Vergnaud, A.-C. (Anne-Claire), Wallentin, L.C. (Lars), Waterworth, D. (Dawn), White, H.D. (Harvey D.), Wilson, J.F. (James), Zonderman, A.B., Kathiresan, S. (Sekar), Grarup, N. (Niels), Esko, T. (Tõnu), Loos, R.J.F. (Ruth), Lange, L.A. (Leslie), Faraday, N. (Nauder), Abumrad, N.A. (Nada A.), Edwards, T.L. (Todd L.), Ganesh, S.K. (Santhi), Auer, P. (Paul), Johnson, A.D. (Andrew), Reiner, A. (Alexander), Lettre, G. (Guillaume), Chami, N. (Nathalie), Chen, M.-H. (Ming-Huei), Slater, A.J. (Andrew J.), Eicher, J.D. (John D.), Evangelou, E. (Evangelos), Tajuddin, S.M. (Salman M.), Love-Gregory, L. (Latisha), Kacprowski, T. (Tim), Schick, U.M. (Ursula), Nomura, A. (Akihiro), Giri, A. (Ayush), Lessard, S. (Samuel), Brody, J.A. (Jennifer A.), Schurmann, C. (Claudia), Pankratz, V.S. (Shane), Yanek, L.R. (Lisa), Manichaikul, A. (Ani), Pazoki, R. (Raha), Mihailov, E. (Evelin), Hill, W.D. (W. David), Raffield, L.M. (Laura M.), Burt, A.D. (Alastair), Bartz, T.M. (Traci M.), Becker, D.M. (Diane), Becker, L.C. (Lewis), Boerwinkle, E.A. (Eric), Bork-Jensen, J. (Jette), Bottinger, E.P. (Erwin), O'Donoghue, M.L. (Michelle L.), Crosslin, D.R. (David), de Denus, S. (Simon), Dubé, M.-P. (Marie-Pierre), Elliott, P. (Paul), Engström, G., Evans, M.K. (Michele), Floyd, J. (James), Fornage, M. (Myriam), Gao, H. (He), Greinacher, A. (Andreas), Gudnason, V. (Vilmundur), Hansen, T. (T.), Harris, T.B. (Tamara), Hayward, C. (Caroline), Hernesniemi, J. (Jussi), Highland, H. (Heather), Hirschhorn, J.N. (Joel), Hofman, A. (Albert), Irvin, M.R. (Marguerite R.), Kähönen, M. (Mika), Lange, E.M. (Ethan), Launer, L.J. (Lenore J.), Lehtimäki, T. (Terho), Li, J. (Jin), Liewald, D.C.M. (David), Linneberg, A. (Allan), Liu, Y. (YongMei), Lu, Y. (Yingchang), Lyytikäinen, L.-P. (Leo-Pekka), Mägi, R. (Reedik), Mathias, J. (Jasmine), Melander, O. (Olle), Metspalu, A. (Andres), Mononen, K. (Kari), Nalls, M.A. (Michael), Nickerson, D.A. (Deborah), Nikus, K. (Kjell), O'Donnell, C.J. (Christopher), Orho-Melander, M. (Marju), Pedersen, O. (Oluf), Petersmann, A. (Astrid), Polfus, L. (Linda), Psaty, B.M. (Bruce), Raitakari, O.T. (Olli T.), Raitoharju, E. (Emma), Richard, M. (Melissa), Rice, K.M. (Kenneth), Rivadeneira Ramirez, F. (Fernando), Rotter, J.I. (Jerome I.), Schmidt, F. (Frank), Smith, A.V. (Albert Vernon), Starr, J.M. (John), Taylor, K.D. (Kent), Teumer, A. (Alexander), Thuesen, B.H. (Betina H.), Torstenson, E.S. (Eric S.), Tracy, R.P. (Russell), Tzoulaki, I., Zakai, N.A. (Neil), Vacchi-Suzzi, C. (Caterina), Duijn, C.M. (Cornelia) van, Rooij, F.J.A. (Frank) van, Cushman, M. (Mary Ann), Deary, I.J. (Ian), Velez Edwards, D.R. (Digna R.), Vergnaud, A.-C. (Anne-Claire), Wallentin, L.C. (Lars), Waterworth, D. (Dawn), White, H.D. (Harvey D.), Wilson, J.F. (James), Zonderman, A.B., Kathiresan, S. (Sekar), Grarup, N. (Niels), Esko, T. (Tõnu), Loos, R.J.F. (Ruth), Lange, L.A. (Leslie), Faraday, N. (Nauder), Abumrad, N.A. (Nada A.), Edwards, T.L. (Todd L.), Ganesh, S.K. (Santhi), Auer, P. (Paul), Johnson, A.D. (Andrew), Reiner, A. (Alexander), and Lettre, G. (Guillaume)
- Abstract
Red blood cell (RBC) traits are important heritable clinical biomarkers and modifiers of disease severity. To identify coding genetic variants associated with these traits, we conducted meta-analyses of seven RBC phenotypes in 130,273 multi-ethnic individuals from studies genotyped on an exome array. After conditional analyses and replication in 27,480 independent individuals, we identified 16 new RBC variants. We found low-frequency missense variants in MAP1A (rs55707100, minor allele frequency [MAF] = 3.3%, p = 2 × 10−10 for hemoglobin [HGB]) and HNF4A (rs1800961, MAF = 2.4%, p < 3 × 10−8 for hematocrit [HCT] and HGB). In African Americans, we identified a nonsense variant in CD36 associated with higher RBC distribut
- Published
- 2016
- Full Text
- View/download PDF
6. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
- Author
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Eicher, J.D. (John D.), Chami, N. (Nathalie), Kacprowski, T. (Tim), Nomura, A. (Akihiro), Chen, M.-H. (Ming-Huei), Yanek, L.R. (Lisa), Tajuddin, S.M. (Salman M.), Schick, U.M. (Ursula), Slater, A.J. (Andrew J.), Pankratz, V.S. (Shane), Polfus, L. (Linda), Schurmann, C. (Claudia), Giri, A. (Ayush), Brody, J.A. (Jennifer A.), Lange, L.A. (Leslie), Manichaikul, A. (Ani), Hill, W.D. (W. David), Pazoki, R. (Raha), Elliot, P. (Paul), Evangelou, E. (Evangelos), Tzoulaki, I., Gao, H. (He), Vergnaud, A.-C. (Anne-Claire), Mathias, J. (Jasmine), Becker, D.M. (Diane), Becker, L.C. (Lewis), Burt, A.D. (Alastair), Crosslin, D.R. (David), Lyytikäinen, L.-P. (Leo-Pekka), Nikus, K. (Kjell), Hernesniemi, J. (Jussi), Kähönen, M. (Mika), Raitoharju, E. (Emma), Mononen, K. (Kari), Raitakari, O.T. (Olli T.), Lehtimäki, T. (Terho), Cushman, M. (Mary Ann), Zakai, N.A. (Neil), Nickerson, D.A. (Deborah), Raffield, L.M. (Laura M.), Quarells, R. (Rakale), Willer, C.J. (Cristen), Peloso, G.M. (Gina), Abecasis, G.R. (Gonçalo), Liu, D. (Dajiang), Deloukas, P. (Panagiotis), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Erdmann, J. (Jeanette), Fornage, M. (Myriam), Richard, M. (Melissa), Tardif, J.-C. (Jean-Claude), Rioux, J.D. (John D.), Dube, M.-P. (Marie-Pierre), de Denus, S. (Simon), Lu, Y. (Yingchang), Bottinger, E.P. (Erwin), Loos, R.J.F. (Ruth), Smith, A.V. (Albert Vernon), Harris, T.B. (Tamara), Launer, L.J. (Lenore J.), Gudnason, V. (Vilmundur), Velez Edwards, D.R. (Digna R.), Torstenson, E.S. (Eric S.), Liu, Y. (YongMei), Tracy, R.P. (Russell), Rotter, J.I. (Jerome I.), Rich, S.S. (Stephen), Highland, H. (Heather), Boerwinkle, E.A. (Eric), Li, J. (Jin), Lange, E.M. (Ethan), Wilson, J.F. (James), Mihailov, E. (Evelin), Mägi, R. (Reedik), Hirschhorn, J.N. (Joel), Metspalu, A. (Andres), Esko, T. (Tõnu), Vacchi-Suzzi, C. (Caterina), Nalls, M.A. (Michael), Zonderman, A.B., Evans, M.K. (Michele), Engström, G., Orho-Melander, M. (Marju), Melander, O. (Olle), O'Donoghue, M.L. (Michelle L.), Waterworth, D. (Dawn), Wallentin, L.C. (Lars), White, H.D. (Harvey D.), Floyd, J. (James), Bartz, T.M. (Traci M.), Rice, K.M. (Kenneth), Psaty, B.M. (Bruce), Starr, J.M. (John), Liewald, D.C.M. (David), Hayward, C. (Caroline), Deary, I.J. (Ian), Greinacher, A. (Andreas), Völker, U. (Uwe), Thiele, T. (Thomas), Völzke, H. (Henry), Rooij, F.J.A. (Frank) van, Uitterlinden, A.G. (André), Franco, O.H. (Oscar), Dehghan, A. (Abbas), Edwards, T.L. (Todd L.), Ganesh, S.K. (Santhi), Kathiresan, S. (Sekar), Faraday, N. (Nauder), Auer, P. (Paul), Reiner, A. (Alexander), Lettre, G. (Guillaume), Johnson, A.D. (Andrew), Eicher, J.D. (John D.), Chami, N. (Nathalie), Kacprowski, T. (Tim), Nomura, A. (Akihiro), Chen, M.-H. (Ming-Huei), Yanek, L.R. (Lisa), Tajuddin, S.M. (Salman M.), Schick, U.M. (Ursula), Slater, A.J. (Andrew J.), Pankratz, V.S. (Shane), Polfus, L. (Linda), Schurmann, C. (Claudia), Giri, A. (Ayush), Brody, J.A. (Jennifer A.), Lange, L.A. (Leslie), Manichaikul, A. (Ani), Hill, W.D. (W. David), Pazoki, R. (Raha), Elliot, P. (Paul), Evangelou, E. (Evangelos), Tzoulaki, I., Gao, H. (He), Vergnaud, A.-C. (Anne-Claire), Mathias, J. (Jasmine), Becker, D.M. (Diane), Becker, L.C. (Lewis), Burt, A.D. (Alastair), Crosslin, D.R. (David), Lyytikäinen, L.-P. (Leo-Pekka), Nikus, K. (Kjell), Hernesniemi, J. (Jussi), Kähönen, M. (Mika), Raitoharju, E. (Emma), Mononen, K. (Kari), Raitakari, O.T. (Olli T.), Lehtimäki, T. (Terho), Cushman, M. (Mary Ann), Zakai, N.A. (Neil), Nickerson, D.A. (Deborah), Raffield, L.M. (Laura M.), Quarells, R. (Rakale), Willer, C.J. (Cristen), Peloso, G.M. (Gina), Abecasis, G.R. (Gonçalo), Liu, D. (Dajiang), Deloukas, P. (Panagiotis), Samani, N.J. (Nilesh), Schunkert, H. (Heribert), Erdmann, J. (Jeanette), Fornage, M. (Myriam), Richard, M. (Melissa), Tardif, J.-C. (Jean-Claude), Rioux, J.D. (John D.), Dube, M.-P. (Marie-Pierre), de Denus, S. (Simon), Lu, Y. (Yingchang), Bottinger, E.P. (Erwin), Loos, R.J.F. (Ruth), Smith, A.V. (Albert Vernon), Harris, T.B. (Tamara), Launer, L.J. (Lenore J.), Gudnason, V. (Vilmundur), Velez Edwards, D.R. (Digna R.), Torstenson, E.S. (Eric S.), Liu, Y. (YongMei), Tracy, R.P. (Russell), Rotter, J.I. (Jerome I.), Rich, S.S. (Stephen), Highland, H. (Heather), Boerwinkle, E.A. (Eric), Li, J. (Jin), Lange, E.M. (Ethan), Wilson, J.F. (James), Mihailov, E. (Evelin), Mägi, R. (Reedik), Hirschhorn, J.N. (Joel), Metspalu, A. (Andres), Esko, T. (Tõnu), Vacchi-Suzzi, C. (Caterina), Nalls, M.A. (Michael), Zonderman, A.B., Evans, M.K. (Michele), Engström, G., Orho-Melander, M. (Marju), Melander, O. (Olle), O'Donoghue, M.L. (Michelle L.), Waterworth, D. (Dawn), Wallentin, L.C. (Lars), White, H.D. (Harvey D.), Floyd, J. (James), Bartz, T.M. (Traci M.), Rice, K.M. (Kenneth), Psaty, B.M. (Bruce), Starr, J.M. (John), Liewald, D.C.M. (David), Hayward, C. (Caroline), Deary, I.J. (Ian), Greinacher, A. (Andreas), Völker, U. (Uwe), Thiele, T. (Thomas), Völzke, H. (Henry), Rooij, F.J.A. (Frank) van, Uitterlinden, A.G. (André), Franco, O.H. (Oscar), Dehghan, A. (Abbas), Edwards, T.L. (Todd L.), Ganesh, S.K. (Santhi), Kathiresan, S. (Sekar), Faraday, N. (Nauder), Auer, P. (Paul), Reiner, A. (Alexander), Lettre, G. (Guillaume), and Johnson, A.D. (Andrew)
- Abstract
Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets’ important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively. Using the low-frequency/rare coding variant-enriched Exomechip genotyping array, we sought to identify genetic variants associated with PLT and MPV. In addition to confirming 47 known PLT and 20 known MPV associations, we identified 32 PLT and 18 MPV associations not previously observed in the literature across the allele frequency spectrum, including rare large effect (FCER1A), low-frequency (IQGAP2, MAP1A, LY75), and common (ZMIZ2, SMG6, PEAR1, ARFGAP3/PACSIN2) variants. Several variants associated with PLT/MPV (PEAR1, MRVI1, PTGES3) were also associated with platelet reactivity. In concurrent BCX analyses, there was overlap of platelet-associated variants with red (MAP1A, TMPRSS6, ZMIZ2) and white (PEAR1, ZMIZ2, LY75) blood cell traits, suggesting common regulatory pathways with shared genetic architecture among these hematopoietic lineages. Our large-scale Exomechip analyses identified previously undocumented associations with platelet traits and further indicate that several complex quantitative hematological, lipid, and cardiovascular traits share genetic factors.
- Published
- 2016
- Full Text
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7. Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene
- Author
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Van Ingen, G. (Gijs), Li, J. (Jin), Goedegebure, A. (Andre), Pandey, R. (Rahul), Rose Li, Y. (Yun), March, K. (Keith), Jaddoe, V.W.V. (Vincent), Bakay, M. (Marina), Mentch, F.D. (Frank), Thomas, K. (Kelly), Wei, Z. (Zhi), Chang, X. (Xiao), Hain, H.S. (Heather S.), Uitterlinden, A.G. (André), Moll, H.A. (Henriëtte), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Raat, H. (Hein), Baatenburg de Jong, R.J. (Robert Jan), Sleiman, P.M.A. (Patrick), Schroeff, M.P. (Marc) van der, Hakonarson, H. (Hakon), Van Ingen, G. (Gijs), Li, J. (Jin), Goedegebure, A. (Andre), Pandey, R. (Rahul), Rose Li, Y. (Yun), March, K. (Keith), Jaddoe, V.W.V. (Vincent), Bakay, M. (Marina), Mentch, F.D. (Frank), Thomas, K. (Kelly), Wei, Z. (Zhi), Chang, X. (Xiao), Hain, H.S. (Heather S.), Uitterlinden, A.G. (André), Moll, H.A. (Henriëtte), Duijn, C.M. (Cornelia) van, Rivadeneira Ramirez, F. (Fernando), Raat, H. (Hein), Baatenburg de Jong, R.J. (Robert Jan), Sleiman, P.M.A. (Patrick), Schroeff, M.P. (Marc) van der, and Hakonarson, H. (Hakon)
- Abstract
Acute otitis media (AOM) is among the most common pediatric diseases, and the most frequent reason for antibiotic treatment in children. Risk of AOM is dependent on environmental and host factors, as well as a significant genetic component. We identify genome-wide significance at a locus on 6q25.3 (rs2932989, Pmeta=2.15 × 10-09), and show that the associated variants are correlated with the methylation status of the FNDC1 gene (cg05678571, P=1.43 × 10-06), and further show it is an eQTL for FNDC1 (P=9.3 × 10-05). The mouse homologue, Fndc1, is expressed in middle ear tissue and its expression is upregulated upon lipopolysaccharide treatment. In th
- Published
- 2016
- Full Text
- View/download PDF
8. Meta-analysis identifies seven susceptibility loci involved in the atopic March
- Author
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Marenholz, I. (Ingo), Esparza-Gordillo, J. (Jorge), Rüschendorf, F. (Franz), Bauerfeind, A. (Anja), Strachan, D.P. (David P.), Spycher, B.D. (Ben D.), Baurecht, H. (Hansjörg), Margaritte-Jeannin, P. (Patricia), Sääf, A. (Annika), Kerkhof, M. (Marjan), Ege, M. (Markus), Baltic, S. (Svetlana), Matheson, J., Li, J. (Jin), Michel, S. (Sven), Ang, W.Q. (Wei Q.), McArdle, W.L. (Wendy), Homuth, G. (Georg), Demenais, F. (Florence), Bouzigon, E. (Emmanuelle), Söderhäll, C. (Cilla), Pershagen, G. (Göran), Jongste, J.C. (Johan) de, Postma, D.S. (Dirkje), Braun-Fahrländer, C. (Charlotte), Horak, E. (Elisabeth), Ogorodova, L.M. (Ludmila M.), Puzyrev, V.P. (Valery P.), Bragina, E.Y. (Elena Yu), Hudson, T.J. (Thomas), Morin, C. (Charles), Duffy, D.L. (David), Marks, G.B. (Guy B.), Robertson, C., Montgomery, G.W. (Grant), Musk, A.W. (Arthur), Thompson, P.J. (Philip), Martin, N.G. (Nicholas), James, A.L. (Alan), Sleiman, P.M.A. (Patrick), Toskala, E. (Elina), Rodríguez, P.M., Fölster-Holst, R. (R.), Franke, A. (Andre), Lieb, W. (Wolfgang), Gieger, C. (Christian), Heinzmann, A. (Andrea), Rietschel, E. (Ernst), Keil, M. (Mark), Cichon, S. (Sven), Nöthen, M.M. (Markus M.), Pennell, C.E. (Craig), Sly, P.D., Schmidt, C.O. (Carsten Oliver), Matanovic, A. (Anja), Schneider, V. (Valentin), Heinig, M. (Matthias), Hübner, N. (Norbert), Holt, P.G. (Patrick), Lau, S. (Susanne), Kabesch, M. (Michael), Weidinger, S. (Stefan), Hakonarson, H. (Hakon), Ferreira, M.A. (Manuel), Laprise, C. (Catherine), Freidin, M.B. (M.), Genuneit, J. (Jon), Koppelman, G.H. (Gerard), Melén, E. (Erik), Dizier, M.-H., Arnold, A.M. (Alice), Henderson, A.J. (A. John), Lee, Y.-A. (Young-Ae), Marenholz, I. (Ingo), Esparza-Gordillo, J. (Jorge), Rüschendorf, F. (Franz), Bauerfeind, A. (Anja), Strachan, D.P. (David P.), Spycher, B.D. (Ben D.), Baurecht, H. (Hansjörg), Margaritte-Jeannin, P. (Patricia), Sääf, A. (Annika), Kerkhof, M. (Marjan), Ege, M. (Markus), Baltic, S. (Svetlana), Matheson, J., Li, J. (Jin), Michel, S. (Sven), Ang, W.Q. (Wei Q.), McArdle, W.L. (Wendy), Homuth, G. (Georg), Demenais, F. (Florence), Bouzigon, E. (Emmanuelle), Söderhäll, C. (Cilla), Pershagen, G. (Göran), Jongste, J.C. (Johan) de, Postma, D.S. (Dirkje), Braun-Fahrländer, C. (Charlotte), Horak, E. (Elisabeth), Ogorodova, L.M. (Ludmila M.), Puzyrev, V.P. (Valery P.), Bragina, E.Y. (Elena Yu), Hudson, T.J. (Thomas), Morin, C. (Charles), Duffy, D.L. (David), Marks, G.B. (Guy B.), Robertson, C., Montgomery, G.W. (Grant), Musk, A.W. (Arthur), Thompson, P.J. (Philip), Martin, N.G. (Nicholas), James, A.L. (Alan), Sleiman, P.M.A. (Patrick), Toskala, E. (Elina), Rodríguez, P.M., Fölster-Holst, R. (R.), Franke, A. (Andre), Lieb, W. (Wolfgang), Gieger, C. (Christian), Heinzmann, A. (Andrea), Rietschel, E. (Ernst), Keil, M. (Mark), Cichon, S. (Sven), Nöthen, M.M. (Markus M.), Pennell, C.E. (Craig), Sly, P.D., Schmidt, C.O. (Carsten Oliver), Matanovic, A. (Anja), Schneider, V. (Valentin), Heinig, M. (Matthias), Hübner, N. (Norbert), Holt, P.G. (Patrick), Lau, S. (Susanne), Kabesch, M. (Michael), Weidinger, S. (Stefan), Hakonarson, H. (Hakon), Ferreira, M.A. (Manuel), Laprise, C. (Catherine), Freidin, M.B. (M.), Genuneit, J. (Jon), Koppelman, G.H. (Gerard), Melén, E. (Erik), Dizier, M.-H., Arnold, A.M. (Alice), Henderson, A.J. (A. John), and Lee, Y.-A. (Young-Ae)
- Abstract
Eczema often precedes the development of asthma in a disease course called the a 'atopic march'. To unravel the genes underlying this characteristic pattern of allergic disease, we conduct a multi-stage genome-wide association study on infantile eczema followed by childhood asthma in 12 populations including 2,428 cases and 17,034 controls. Here we report two novel loci specific for the combined eczema plus asthma phenotype, which are associated with allergic disease for the first time; rs9357733 located in EFHC1 on chromosome 6p12.3 (OR 1.27; P=2.1 × 10 a'8) and rs993226 between TMTC2 and SLC6A15 on chromosome 12q21.3 (OR 1.58; P=5.3 × 10 a'9). Additional susceptibility loci identified a
- Published
- 2015
- Full Text
- View/download PDF
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