rs12199720 - SUPT3H, RUNX2

Magnitude 2.2 · 1 study on file

Reported associations

  • Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study. - JAMA ophthalmology (2021) · Han X, Ong JS, An J, Craig JE, Gharahkhani P, Hewitt AW, MacGregor S · PubMed 32352494

    Rhegmatogenous retinal detachment is a potentially sight-threatening condition. The role of myopia or intraocular pressure (IOP) in retinal detachment remains unclear. To determine if myopia or IOP is associated with retinal detachment risk using genetic data. Observational analyses and 2-sample mendelian randomization were used to evaluate the associations between myopia, IOP, and retinal detachment risk in European descent participants from the UK Biobank (UKBB) cohort (n = 405 692). For retinal detachment, a genome-wide association study on 4257 cases and 39 181 controls in the UKBB was conducted. Genetic variants associated with mean spherical equivalent (MSE) refractive error (n = 95 827) and IOP (n = 101 939) were derived using independent participants from the re


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Lifestyle context

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

Screening

  • intraocular pressure and glaucoma risk Moderate

    The C risk allele at rs12199720 is associated with elevated intraocular pressure, a key risk factor for glaucoma, potentially mediated through SUPT3H expression effects.

    Annual intraocular pressure measurement and discuss glaucoma screening strategy with ophthalmologist.