rs10505102 - ANGPT1

Magnitude 2.2 · 1 study on file

Reported associations

  • Genome-wide association analyses identify new loci influencing intraocular pressure. - Human molecular genetics (2019) · Gao XR, Huang H, Nannini DR, Fan F, Kim H · PubMed 29617998

    Elevated intraocular pressure (IOP) is a significant risk factor for glaucoma, the leading cause of irreversible blindness worldwide. While previous studies have identified numerous genetic variants associated with IOP, these loci only explain a fraction of IOP heritability. Recently established of biobank repositories have resulted in large amounts of data, enabling the identification of the remaining heritability for complex traits. Here, we describe the largest genome-wide association study of IOP to date using participants of European ancestry from the UK Biobank. We identified 671 directly genotyped variants that are significantly associated with IOP (P < 5 × 10-8). In addition to 103 novel loci, the top ranked novel IOP genes are LMX1B, NR1H3, MADD and SEPT9. We replicated t


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Lifestyle context

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

Discuss with your doctor

  • Glaucoma risk assessment with ophthalmologist Moderate

    ANGPT1 variant increases intraocular pressure; personalized risk assessment guides screening approach

    Schedule comprehensive eye examination, especially if age 40 or older or family history of glaucoma

Screening

  • Intraocular pressure screening Moderate

    ANGPT1 T allele associated with elevated intraocular pressure, a key risk factor for glaucoma

    Baseline IOP measurement; periodic monitoring, especially if age 40 or older