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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Hysi, PG; Cheng, C-Y; Springelkamp, H; Macgregor, S; Bailey, JNC; Wojciechowski, R; Vitart, V; Nag, A; Hewitt, AW; Höhn, R; Venturini, C; Mirshahi, A; Ramdas, WD; Thorleifsson, G; Vithana, E; Khor, C-C; Stefansson, AB; Liao, J; Haines, JL; Amin, N; Wang, YX; Wild, PS; Ozel, AB; Li, JZ; Fleck, BW; Zeller, T; Staffieri, SE; Teo, Y-Y; 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, DDG; Ennis, S; Moroi, SE; Martin, NG; Jansonius, NM; Yazar, S; Tai, E-S; Amouyel, P; Kirwan, J; van Koolwijk, LME; Hauser, MA; Jonasson, F; Leo, P; Loomis, SJ; Fogarty, R; Rivadeneira, F; Kearns, L; Lackner, KJ; de Jong, PTVM; Simpson, CL; Pennell, CE; Oostra, BA; Uitterlinden, AG; Saw, S-M; Lotery, AJ; Bailey-Wilson, JE; Hofman, A; Vingerling, JR; Maubaret, C; Pfeiffer, N; Wolfs, RCW; Lemij, HG; Young, TL; Pasquale, LR; Delcourt, C; Spector, TD; Klaver, CCW; Small, KS; Burdon, KP; Stefansson, K; Wong, T-Y; BMES GWAS Group, ; NEIGHBORHOOD Consortium, ; Wellcome Trust Case Control Consortium 2, ; Viswanathan, A; Mackey, DA; Craig, JE; Wiggs, JL; van Duijn, CM; Hammond, CJ; Aung, T

Published Date

  • October 2014

Published In

Volume / Issue

  • 46 / 10

Start / End Page

  • 1126 - 1130

PubMed ID

  • 25173106

Pubmed Central ID

  • PMC4177225

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.3087


  • eng

Conference Location

  • United States