rs1135127 - CRTAP

Magnitude 2.2 · 1 study on file

Reported associations

  • Insights into the genetic basis of retinal detachment - Unknown journal (n.d.) · Unknown authors · PubMed 31816047

    ABSTRACT: Abstract Retinal detachment (RD) is a serious and common condition, but genetic studies to date have been hampered by the small size of the assembled cohorts. In the UK Biobank data set, where RD was ascertained by self-report or hospital records, genetic correlations between RD and high myopia or cataract operation were, respectively, 0.46 (SE = 0.08) and 0.44 (SE = 0.07). These correlations are consistent with known epidemiological associations. Through meta-analysis of genome-wide association studies using UK Biobank RD cases (N = 3 977) and two cohorts, each comprising ~1 000 clinically ascertained rhegmatogenous RD patients, we uncovered 11 genome-wide significant association signals. These are near or within ZC3H11B, BMP3, COL22A1, DLG5, PLCE1, EFEMP2, TYR, F


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Lifestyle context

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

Screening

  • retinal examination and periodic ophthalmology screening Moderate

    CRTAP variants show association with increased retinal detachment and break risk

    annual comprehensive dilated eye exams and assessment of retinal integrity