rs10081 - RIC8A

Magnitude 2.2 · 1 study on file

Reported associations

• A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects - Unknown journal (n.d.) · Unknown authors · PubMed 34127677

  ABSTRACT: Cataract is the leading cause of blindness among the elderly worldwide and cataract surgery is one of the most common operations performed in the United States. As the genetic etiology of cataract formation remains unclear, we conducted a multiethnic genome-wide association meta-analysis, combining results from the GERA and UK Biobank cohorts, and tested for replication in the 23andMe research cohort. We report 54 genome-wide significant loci, 37 of which were novel. Sex-stratified analyses identified CASP7 as an additional novel locus specific to women. We show that genes within or near 80% of the cataract-associated loci are significantly expressed and/or enriched-expressed in the mouse lens across various spatiotemporal stages as per iSyTE analysis. Furthermore, iSyTE shows 32

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