rs11145746 - TJP2

Magnitude 2.2 · 2 studies 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

  • GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology - Unknown journal (n.d.) · Unknown authors · PubMed 41238566

    ABSTRACT: GWAS of primary angle-closure glaucoma have identified eight loci conferring risk in Asian populations. However, it remains unclear whether the genetic risk factors for the disease are consistent across different populations. Here, we present a discovery GWAS for primary angle-closure glaucoma in Europeans using the UK Biobank. We replicate our findings in six independent European populations and compare these results with results from 14 Asian cohorts. Five genomic regions in the discovery cohort are associated at genome-wide significance, including two loci previously identified in Asian cohorts. We next meta-analyse the discovery and replication cohorts to identify six additional novel loci, all previously associated with refractive error. Mendelian randomisation provides evid


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Lifestyle context

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

Discuss with your doctor

  • Angle-closure glaucoma risk and preventive options High

    The risk allele at rs11145746 increases susceptibility to primary angle-closure glaucoma, which can cause acute vision loss; ophthalmologic assessment determines eligibility for preventive intervention

    Discuss genetic risk, gonioscopy findings, and prophylactic laser peripheral iridotomy if narrow angles detected

Screening

  • Comprehensive eye exam with gonioscopy High

    rs11145746 in TJP2 is strongly associated with primary angle-closure glaucoma; early detection and risk stratification enable preventive care

    Annual comprehensive eye exam; include gonioscopy at baseline and every 1-2 years