rs10139172 - EGLN3

Magnitude 2.2 · 1 study on file

Reported associations

  • Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci - Unknown journal (n.d.) · Unknown authors · PubMed 37386247

    ABSTRACT: Glaucoma, a leading cause of irreversible blindness, is a highly heritable human disease. Previous genome-wide association studies have identified over 100 loci for the most common form, primary open-angle glaucoma. Two key glaucoma-associated traits also show high heritability: intraocular pressure and optic nerve head excavation damage quantified as the vertical cup-to-disc ratio. Here, since much of glaucoma heritability remains unexplained, we conducted a large-scale multitrait genome-wide association study in participants of European ancestry combining primary open-angle glaucoma and its two associated traits (total sample size over 600,000) to substantially improve genetic discovery power (263 loci). We further increased our power by then employing a multiancestry approach,


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Lifestyle context

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

Screening

  • primary open angle glaucoma screening Moderate

    rs10139172 risk allele in EGLN3 is associated with increased primary open angle glaucoma risk

    Comprehensive eye examination with intraocular pressure testing, per ophthalmologist recommendation