Expressive

rs11145461 - TJP2

Magnitude 2.0 · 2 studies on file

Reported associations

  • 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

  • Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia - Unknown journal (n.d.) · Unknown authors · PubMed 32231278

    ABSTRACT: Refractive errors, in particular myopia, are a leading cause of morbidity and disability world-wide. Genetic investigation can improve understanding of the molecular mechanisms underlying abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies involving 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (AUC=0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes participating in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm

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