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

PG Hysi, CY (Ching-Yu) Cheng, Henriët Springelkamp, S Macgregor, JNC Bailey, R Wojciechowski, V Vitart, A Nag, AW Hewitt, R Hohn, C Venturini, A Mirshahi, Wishal Ramdas, G Thorleifsson, E Vithana, CC Khor, AB Stefansson, JM Liao, JL Haines, Najaf AminYX Wang, PS Wild, AB Ozel, JZ Li, BW Fleck, T Zeller, SE Staffieri, YY Teo, G Cuellar-Partida, XY Luo, RR Allingham, JE Richards, A Senft, Lennart Karssen, YF Zheng, C Bellenguez, L Xu, AI Iglesias, JF Wilson, JH Kang, Elisa Leeuwen, V Jonsson, U Thorsteinsdottir, Dominiek Despriet, S Ennis, SE Moroi, NG Martin, NM (Nomdo) Jansonius, S Yazar, ES Tai, P Amouyel, J Kirwan, Leonieke Koolwijk, MA Hauser, F Jonasson, P Leo, SJ Loomis, R Fogarty, Fernando Rivadeneira, L Kearns, KJ Lackner, CL Simpson, CE Pennell, Ben Oostra, André Uitterlinden, SM Saw, AJ Lotery, JE Bailey-Wilson, Bert Hofman, Hans Vingerling, C Maubaret, N Pfeiffer, R.C.W. Wolfs, HG Lemij, TL Young, LR Pasquale, C Delcourt, TD Spector, Caroline Klaver, KS Small, KP Burdon, K Stefansson, TY (Tien Yin) Wong, A Viswanathan, DA Mackey, JE Craig, JL Wiggs, Cornelia Duijn, CJ Hammond, T Aung

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195 Citations (Scopus)


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 x 10(-8) for rs6445055), two on chromosome 9 (P = 2.80 x 10(-11) for rs2472493 near ABCA1 and P = 6.39 x 10(-11) for rs8176693 within ABO) and one on chromosome 11p11.2 (best P = 1.04 x 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.
Original languageUndefined/Unknown
Pages (from-to)1126-1130
Number of pages5
JournalNature Genetics
Issue number10
Publication statusPublished - 2014

Research programs

  • EMC MM-01-39-09-A
  • EMC NIHES-01-64-01
  • EMC OR-01-60-01

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