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

journal contribution
posted on 2023-05-18, 03:04 authored by Hysi, PG, Cheng, CY, Springelkamp, H, Macgregor, S, Bailey, JN, Wojciechowski, R, Vitart, V, Nag, A, Alexander HewittAlexander Hewitt, Hohn, R, Venturini, C, Mirshahi, A, Ramdas, WD, Thorleifsson, G, Vithana, E, Khor, CC, Stefansson, AB, Liao, J, Haines, JL, Amin, N, Wang, YX, Wild, PS, Ozel, AB, Li, JZ, Fleck, BW, Zeller, T, Staffieri, SE, Teo, YY, Cuellar-Partida, G, Luo, X, Allingham, RR, Richards, JE, Senft, A, Karssen, LC, Zheng, Y, Bellenguez, C, Xu, L, Iglesias, AI, Wilson, JF, Kang, JH, van Leeuwen, EM, Jonsson, V, Thorsteinsdottir, U, Despriet, DD, Ennis, S, Moroi, SE, Martin, NG, Jansonius, NM, Yazar, S, Tai, ES, Amouyel, P, Kirwan, J, van Koolwijk, LM, Hauser, MA, Jonasson, F, Leo, P, Loomis, SJ, Fogarty, R, Rivadeneira, F, Kearns, L, Lackner, KJ, de Jong, PT, Simpson, CL, Pennell, CE, Oostra, BA, Uitterlinden, AG, Saw, SM, Lotery, AJ, Bailey-Wilson, JE, Hofman, A, Vingerling, JR, Maubaret, C, Pfeiffer, N, Wolfs, RC, Lemij, HG, Young, TL, Pasquale, LR, Delcourt, C, Spector, TD, Klaver, CC, Small, KS, Kathryn BurdonKathryn Burdon, Stefansson, K, Wong, TY, Viswanathan, A, David MackeyDavid Mackey, Craig, JE, Wiggs, JL, van Duijn, CM, Hammond, CJ, Aung, T
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.


Publication title

Nature Genetics








Tasmanian School of Medicine


Nature Publishing Group

Place of publication

United States

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Copyright 2014 Nature America Inc.

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Socio-economic Objectives

Clinical health not elsewhere classified

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