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

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Pirro G Hysi, Ching-Yu Cheng, Henriët Springelkamp, Stuart Macgregor, Jessica N Cooke Bailey, Robert Wojciechowski, Veronique Vitart, Abhishek Nag, Alex W Hewitt, René Höhn, Cristina Venturini, Alireza Mirshahi, Wishal D Ramdas, Gudmar Thorleifsson, Eranga Vithana, Chiea-Chuen Khor, Arni B Stefansson, Jiemin Liao, Jonathan L Haines, Najaf Amin & 31 more Ya Xing Wang, Philipp S Wild, Ayse B Ozel, Jun Z Li, Brian W Fleck, Tanja Zeller, Sandra E Staffieri, Yik-Ying Teo, Gabriel Cuellar-Partida, Xiaoyan Luo, R Rand Allingham, Julia E Richards, Andrea Senft, Lennart C Karssen, Yingfeng Zheng, Céline Bellenguez, Liang Xu, Adriana I Iglesias, James F Wilson, Jae H Kang, Elisabeth M van Leeuwen, Vesteinn Jonsson, Unnur Thorsteinsdottir, Dominiek D G Despriet, Sarah Ennis, Sayoko E Moroi, Nicholas G Martin, Timothy D Spector, Kerrin S Small, Christopher J Hammond, BMES GWAS Group

Original languageEnglish
Pages (from-to)1126-1130
JournalNature Genetics
Issue number10
Early online date31 Aug 2014
Accepted/In press7 Aug 2014
E-pub ahead of print31 Aug 2014
Published31 Oct 2014

King's Authors


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.

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