rs112142644 - LINC01948 - C5orf67

Magnitude 2.2 · 1 study on file

Reported associations

  • Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries - Unknown journal (n.d.) · Unknown authors · PubMed 33627673

    ABSTRACT: Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. S


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Screening

  • baseline and regular intraocular pressure and glaucoma screening High

    GWAS identified significant genetic association with primary open-angle glaucoma, suggesting increased baseline risk that warrants active monitoring

    comprehensive eye examination including tonometry and optic nerve assessment; discuss screening interval with ophthalmologist based on baseline findings and family history