rs117336047 - UNGP1 - HNRNPA1L3
Magnitude 2.2 · 1 study on file
Reported associations
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Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation - Unknown journal (n.d.) · Unknown authors · PubMed 38382466
ABSTRACT: Summary Primary open-angle glaucoma (POAG), a leading cause of irreversible blindness globally, shows disparity in prevalence and manifestations across ancestries. We perform meta-analysis across 15 biobanks (of the Global Biobank Meta-analysis Initiative) (n = 1,487,441: cases = 26,848) and merge with previous multi-ancestry studies, with the combined dataset representing the largest and most diverse POAG study to date (n = 1,478,037: cases = 46,325) and identify 17 novel significant loci, 5 of which were ancestry specific. Gene-enrichment and transcriptome-wide association analyses implicate vascular and cancer genes, a fifth of which are primary ciliary related. We perform an extensive statistical analysis of SIX6 and CDKN2B-AS1 loci in human GTEx data and across large ele
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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 with eye care provider Moderate
Genetic variant significantly increases primary open-angle glaucoma susceptibility
Screening
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intraocular pressure screening Moderate
Variant significantly increases primary open-angle glaucoma risk identified in large GWAS cohort
Baseline eye exam with IOP measurement, then annual screening or as recommended by ophthalmologist