Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
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DOI：
10.1038/ng.3087
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发表时间：
2014-10
期刊：
影响因子：
30.8
通讯作者：
Aung, Tin
中科院分区：
文献类型：
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作者：
Hysi, Pirro G.;Cheng, Ching-Yu;Springelkamp, Henriet;Macgregor, Stuart;Bailey, Jessica N. Cooke;Wojciechowski, Robert;Vitart, Veronique;Nag, Abhishek;Hewitt, Alex W.;Hohn, Rene;Venturini, Cristina;Mirshahi, Alireza;Ramdas, Wishal D.;Thorleifsson, Gudmar;Vithana, Eranga;Khor, Chiea-Chuen;Stefansson, Arni B.;Liao, Jiemin;Haines, Jonathan L.;Amin, Najaf;Wang, Ya Xing;Wild, Philipp S.;Ozel, Ayse B.;Li, Jun Z.;Fleck, Brian W.;Zeller, Tanja;Staffieri, Sandra E.;Teo, Yik-Ying;Cuellar-Partida, Gabriel;Luo, Xiaoyan;Allingham, R. Rand;Richards, Julia E.;Senft, Andrea;Karssen, Lennart C.;Zheng, Yingfeng;Bellenguez, Celine;Xu, Liang;Iglesias, Adriana I.;Wilson, James F.;Kang, Jae H.;van Leeuwen, Elisabeth M.;Jonsson, Vesteinn;Thorsteinsdottir, Unnur;Despriet, Dominiek D. G.;Ennis, Sarah;Moroi, Sayoko E.;Martin, Nicholas G.;Jansonius, Nomdo M.;Yazar, Seyhan;Tai, E-Shyong;Amouyel, Philippe;Kirwan, James;van Koolwijk, Leonieke M. E.;Hauser, Michael A.;Jonasson, Fridbert;Leo, Paul;Loomis, Stephanie J.;Fogarty, Rhys;Rivadeneira, Fernando;Kearns, Lisa;Lackner, Karl J.;de Jong, Paulus T. V. M.;Simpson, Claire L.;Pennell, Craig E.;Oostra, Ben A.;Uitterlinden, Andre G.;Saw, Seang-Mei;Lotery, Andrew J.;Bailey-Wilson, Joan E.;Hofman, Albert;Vingerling, Johannes R.;Maubaret, Cecilia;Pfeiffer, Norbert;Wolfs, Roger C. W.;Lemij, Hans G.;Young, Terri L.;Pasquale, Louis R.;Delcourt, Cecile;Spector, Timothy D.;Klaver, Caroline C. W.;Small, Kerrin S.;Burdon, Kathryn P.;Stefansson, Kari;Wong, Tien-Yin;Viswanathan, Ananth;Mackey, David A.;Craig, Jamie E.;Wiggs, Janey L.;van Duijn, Cornelia M.;Hammond, Christopher J.;Aung, Tin
眼内压 (IOP) 升高是发生青光眼的重要危险因素，IOP 变异可能预示着青光眼的发生或进展。我们报告了对国际青光眼遗传学联盟 (IGGC) 的 18 个人群队列进行全基因组关联研究荟萃分析的结果，其中包括 35,296 名 IOP 多种族参与者。我们确认了已知 IOP 基因座和原发性开角型青光眼 (POAG) 的遗传关联，并确定了位于 FNDC3B 基因内的染色体 3q25.31 上的四个新 IOP 基因座（rs6445055 的 p=4.19×10−08），两个位于 9 号染色体上（ABCA1 附近的 rs2472493 的 p=2.80×10−11 和 p=2.80×10−11）。对于 ABO 内的 rs8176693，p=6.39×10−11），在染色体 11p11.2 上有一个（对于 rs747782，最佳 p=1.04×10−11）。对四个独立 POAG 队列（总计 4,284 例病例和 95,560 名对照）的单独荟萃分析表明，其中 3 个 IOP 位点也与 POAG 相关。
Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma and IOP variability may herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multiethnic participants for IOP. We confirm genetic association of known loci for IOP and primary open angle glaucoma (POAG) and identify four new IOP loci located on chromosome 3q25.31 within the FNDC3B gene (p=4.19×10−08 for rs6445055), two on chromosome 9 (p=2.80×10−11 for rs2472493 near ABCA1 and p=6.39×10−11 for rs8176693 within ABO) and one on chromosome 11p11.2 (best p=1.04×10−11 for rs747782). Separate meta-analyses of four independent POAG cohorts, totaling 4,284 cases and 95,560 controls, show that three of these IOP loci are also associated with POAG.
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影响因子：
13.7
作者：
Shah, S;Chatterjee, A;McLeod, D
通讯作者：
McLeod, D
影响因子：
3.9
作者：
Carbonaro, F.;Andrew, T.;Hammond, C. J.
通讯作者：
Hammond, C. J.
影响因子：
30.8
作者：
Lu, Yi;Vitart, Veronique;Burdon, Kathryn P.;Khor, Chiea Chuen;Bykhovskaya, Yelena;Mirshahi, Alireza;Hewitt, Alex W.;Koehn, Demelza;Hysi, Pirro G.;Ramdas, Wishal D.;Zeller, Tanja;Vithana, Eranga N.;Cornes, Belinda K.;Tay, Wan-Ting;Tai, E. Shyong;Cheng, Ching-Yu;Liu, Jianjun;Foo, Jia-Nee;Saw, Seang Mei;Thorleifsson, Gudmar;Stefansson, Kari;Dimasi, David P.;Mills, Richard A.;Mountain, Jenny;Ang, Wei;Hoehn, Rene;Verhoeven, Virginie J. M.;Grus, Franz;Wolfs, Roger;Castagne, Raphaele;Lackner, Karl J.;Springelkamp, Henriet;Yang, Jian;Jonasson, Fridbert;Leung, Dexter Y. L.;Chen, Li J.;Tham, Clement C. Y.;Rudan, Igor;Vatavuk, Zoran;Hayward, Caroline;Gibson, Jane;Cree, Angela J.;MacLeod, Alex;Ennis, Sarah;Polasek, Ozren;Campbell, Harry;Wilson, James F.;Viswanathan, Ananth C.;Fleck, Brian;Li, Xiaohui;Siscovick, David;Taylor, Kent D.;Rotter, Jerome I.;Yazar, Seyhan;Ulmer, Megan;Li, Jun;Yaspan, Brian L.;Ozel, Ayse B.;Richards, Julia E.;Moroi, Sayoko E.;Haines, Jonathan L.;Kang, Jae H.;Pasquale, Louis R.;Allingham, R. Rand;Ashley-Koch, Allison;Mitchell, Paul;Wang, Jie Jin;Wright, Alan F.;Pennell, Craig;Spector, Timothy D.;Young, Terri L.;Klaver, Caroline C. W.;Martin, Nicholas G.;Montgomery, Grant W.;Anderson, Michael G.;Aung, Tin;Willoughby, Colin E.;Wiggs, Janey L.;Pang, Chi P.;Thorsteinsdottir, Unnur;Lotery, Andrew J.;Hammond, Christopher J.;van Duijn, Cornelia M.;Hauser, Michael A.;Rabinowitz, Yaron S.;Pfeiffer, Norbert;Mackey, David A.;Craig, Jamie E.;Macgregor, Stuart;Wong, Tien Y.
通讯作者：
Wong, Tien Y.
DOI：
10.3129/i09-104
发表时间：
2009-10-01
影响因子：
4.2
作者：
Khan, Muhammad Imran;Micheal, Shazia;Qamar, Raheel
通讯作者：
Qamar, Raheel
影响因子：
30.8
作者：
通讯作者：
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