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:

G Thorleifsson, GB Walters, AW Hewitt, G Masson, A Helgason, A DeWan, A Sigurdsson, A Jonasdottir, SA Gudjonsson, KP Magnusson, H Stefansson, DS Lam, PO Tam, GJ Gudmundsdottir, L Southgate, KP Burdon, MS Gottfredsdottir, MA Aldred, P Mitchell, D St Clair, DA Collier, N Tang, O Sveinsson, S Macgregor, NG Martin, AJ Cree, J Gibson, A Macleod, A Jacob, S Ennis, TL Young, JC Chan, WS Karwatowski, CJ Hammond, K Thordarson, M Zhang, C Wadelius, AJ Lotery, RC Trembath, CP Pang, J Hoh, JE Craig, A Kong, DA Mackey, F Jonasson, U Thorsteinsdottir, K Stefansson

TITLE:

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.

JOURNAL:

Nature genetics Oct 2010, Vol 42, pp. 906-9

ABSTRACT:

We conducted a genome-wide association study for primary open-angle glaucoma (POAG) in 1,263 affected individuals (cases) and 34,877 controls from Iceland. We identified a common sequence variant at 7q31 (rs4236601[A], odds ratio (OR) = 1.36, P = 5.0 × 10⁻¹⁰). We then replicated the association in sample sets of 2,175 POAG cases and 2,064 controls from Sweden, the UK and Australia (combined OR = 1.18, P = 0.0015) and in 299 POAG cases and 580 unaffected controls from Hong Kong and Shantou, China (combined OR = 5.42, P = 0.0021). The risk variant identified here is located close to CAV1 and CAV2, both of which are expressed in the trabecular meshwork and retinal ganglion cells that are involved in the pathogenesis of POAG. PUBMED: 20835238
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