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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

ABSTRACT: Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might 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 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associated loci located on chromosome 3q25.31 within the FNDC3B gene (P = 4.19 × 10(-8) 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 4 independent POAG cohorts, totaling 4,284 cases and 95,560 controls, showed that 3 of these loci for IOP were also associated with POAG.

SUBMITTER: Hysi PG 

PROVIDER: S-EPMC4177225 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature

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Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

Hysi Pirro G PG   Cheng Ching-Yu CY   Springelkamp Henriët H   Macgregor Stuart S   Bailey Jessica N Cooke JNC   Wojciechowski Robert R   Vitart Veronique V   Nag Abhishek A   Hewitt Alex W AW   Höhn René R   Venturini Cristina C   Mirshahi Alireza A   Ramdas Wishal D WD   Thorleifsson Gudmar G   Vithana Eranga E   Khor Chiea-Chuen CC   Stefansson Arni B AB   Liao Jiemin J   Haines Jonathan L JL   Amin Najaf N   Wang Ya Xing YX   Wild Philipp S PS   Ozel Ayse B AB   Li Jun Z JZ   Fleck Brian W BW   Zeller Tanja T   Staffieri Sandra E SE   Teo Yik-Ying YY   Cuellar-Partida Gabriel G   Luo Xiaoyan X   Allingham R Rand RR   Richards Julia E JE   Senft Andrea A   Karssen Lennart C LC   Zheng Yingfeng Y   Bellenguez Céline C   Xu Liang L   Iglesias Adriana I AI   Wilson James F JF   Kang Jae H JH   van Leeuwen Elisabeth M EM   Jonsson Vesteinn V   Thorsteinsdottir Unnur U   Despriet Dominiek D G DDG   Ennis Sarah S   Moroi Sayoko E SE   Martin Nicholas G NG   Jansonius Nomdo M NM   Yazar Seyhan S   Tai E-Shyong ES   Amouyel Philippe P   Kirwan James J   van Koolwijk Leonieke M E LME   Hauser Michael A MA   Jonasson Fridbert F   Leo Paul P   Loomis Stephanie J SJ   Fogarty Rhys R   Rivadeneira Fernando F   Kearns Lisa L   Lackner Karl J KJ   de Jong Paulus T V M PTVM   Simpson Claire L CL   Pennell Craig E CE   Oostra Ben A BA   Uitterlinden André G AG   Saw Seang-Mei SM   Lotery Andrew J AJ   Bailey-Wilson Joan E JE   Hofman Albert A   Vingerling Johannes R JR   Maubaret Cécilia C   Pfeiffer Norbert N   Wolfs Roger C W RCW   Lemij Hans G HG   Young Terri L TL   Pasquale Louis R LR   Delcourt Cécile C   Spector Timothy D TD   Klaver Caroline C W CCW   Small Kerrin S KS   Burdon Kathryn P KP   Stefansson Kari K   Wong Tien-Yin TY   Viswanathan Ananth A   Mackey David A DA   Craig Jamie E JE   Wiggs Janey L JL   van Duijn Cornelia M CM   Hammond Christopher J CJ   Aung Tin T  

Nature genetics 20140831 10

Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma, and variability in IOP might 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 multi-ancestry participants for IOP. We confirm genetic association of known loci for IOP and primary open-angle glaucoma (POAG) and identify four new IOP-associ  ...[more]

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