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- W3088945674 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 1-3 . The etiology remains largely unclear, and to contribute to its elucidation we conducted a multiethnic genome-wide association meta-analysis of cataract, combining results from the GERA and UK Biobank cohorts, and tested for replication in the research cohort from 23andMe, Inc.. We report 54 genome-wide significant loci, 37 of which were previously unknown. Sex-stratified analyses identified two additional novel loci ( CASP7 and GSTM2 ) specific to women and sex differences in effect sizes and significance of association at five other loci. 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. Further, 32 candidate genes in the associated loci have altered gene expression in 9 different gene perturbation mouse models of lens defects/cataract, suggesting their relevance to lens biology." @default.
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- W3088945674 date "2020-09-24" @default.
- W3088945674 modified "2023-10-17" @default.
- W3088945674 title "A multiethnic GWAS meta-analysis of 585,243 individuals identifies new risk loci associated with cataract and reveals sex-specific effects" @default.
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- W3088945674 doi "https://doi.org/10.1101/2020.09.23.20200428" @default.
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