DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Glaucoma (primary open-angle). The EFO term open-angle glaucoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: open-angle glaucoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

P Gharahkhani, KP Burdon, R Fogarty, S Sharma, AW Hewitt, S Martin, MH Law, K Cremin, JN Bailey, SJ Loomis, LR Pasquale, JL Haines, MA Hauser, AC Viswanathan, P McGuffin, F Topouzis, PJ Foster, SL Graham, RJ Casson, M Chehade, AJ White, T Zhou, E Souzeau, J Landers, JT Fitzgerald, S Klebe, JB Ruddle, I Goldberg, PR Healey, RA Mills, JJ Wang, GW Montgomery, NG Martin, G Radford-Smith, DC Whiteman, MA Brown, JL Wiggs, DA Mackey, P Mitchell, S MacGregor, JE Craig

TITLE:

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

JOURNAL:

Nature genetics Oct 2014, Vol 46, pp. 1120-5

ABSTRACT:

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. PUBMED: 25173105
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