Expressive

rs10919908 - LINC00862

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

  • Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error - Unknown journal (n.d.) · Unknown authors · PubMed 29808027

    ABSTRACT: Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants, increased the established independent signals from 37 to 161 and revealed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and functional contributions to refractive error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes elicited novel mechanisms such as rod and cone bipolar synaptic neurot

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