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94293 - Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.pdf (1.22 MB)

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

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posted on 2023-05-18, 03:03 authored by Gharahkhani, P, Kathryn BurdonKathryn Burdon, Fogarty, R, Sharma, S, Alexander HewittAlexander Hewitt, Martin, S, Law, MH, Cremin, K, Cooke Bailey, JN, Loomis, SJ, Pasquale, LR, Haines, JL, Hauser, MA, Viswanathan, AC, McGuffin, P, Topouzis, F, Foster, PJ, Graham, SL, Casson, RJ, Chehade, M, White, AJ, Zhou, T, Souzeau, E, Landers, J, Fitzgerald, JT, Klebe, S, Ruddle, JB, Goldberg, I, Healey, PR, Mills, RA, Wang, JJ, Montgomery, GW, Martin, NG, Radford-Smith, G, Whiteman, DC, Brown, MA, Wiggs, JL, David MackeyDavid Mackey, Mitchell, P, MacGregor, S, Craig, JE
Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 controls. We investigated the association of the top SNPs from the discovery stage in two Australian replication cohorts (932 cases and 6,862 controls total) and two US replication cohorts (2,616 cases and 2,634 controls total). Meta-analysis of all cohorts identified three loci newly associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493[G], odds ratio (OR) = 1.31, P = 2.1 × 10-19), within AFAP1 (rs4619890[G], OR = 1.20, P = 7.0 × 10-10) and within GMDS (rs11969985[G], OR = 1.31, P = 7.7 × 10-10). Using RT-PCR and immunolabeling, we show that these genes are expressed within human retina, optic nerve and trabecular meshwork and that ABCA1 and AFAP1 are also expressed in retinal ganglion cells.


Publication title

Nature Genetics










Menzies Institute for Medical Research


Nature Publishing Group

Place of publication

United States

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Copyright 2014 Nature America

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  • Open

Socio-economic Objectives

Clinical health not elsewhere classified

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