Expressive

rs10824516 - KCNMA1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia. - JAMA ophthalmology (2022) · Tideman JWL, Pärssinen O, Haarman AEG, Khawaja AP, Wedenoja J, Williams KM, Biino G, Ding X, Kähönen M, Lehtimäki T, Raitakari OT, Cheng CY, Jonas JB, Young TL, Bailey-Wilson JE, Rahi J, Williams C, He M, Mackey DA, Guggenheim JA · PubMed 33830181

    Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the genetics of refractive error and has clinical relevance for genotype-based prediction of children at risk for HM and for identification of new therapeutic targets. To assess whether a common set of genetic variants are associated with susceptibility to HM, LM, and hyperopia. This genetic association study assessed unrelated UK Biobank participants 40 to 69 years of age of European and Asian ancestry. Participants 40 to 69 years of age living in the United Kingdom were recruited from January 1, 2006, to October 31, 2010. Of the total sample of 502 682 partici

  • 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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