rs11969985 - GMDS
Magnitude 2.8 · 1 study on file
Reported associations
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Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma - Unknown journal (n.d.) · Unknown authors · PubMed 25173105
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 advanced POAG cases and 1,992 controls. Association of the top SNPs from the discovery stage was investigated in two Australian replication cohorts (total 932 cases, 6,862 controls) and two US replication cohorts (total 2,616 cases, 2,634 controls). Meta-analysis of all cohorts revealed three novel loci associated with development of POAG. These loci are located upstream of ABCA1 (rs2472493 [G] 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, and P= 7.7 × 10−10). Using RT-PCR and immunolabelling, we also showed that the
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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Glaucoma screening strategy based on GMDS variant Moderate
GMDS risk allele increases primary open-angle glaucoma risk; early detection enables treatment to prevent vision loss.
Share genetic results with ophthalmologist; determine whether earlier or more frequent screening is appropriate.