Pulse Brain · Growing Health Evidence Index
Peer-reviewed

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

Hélène Choquet, Ronald B. Melles, Deepti Anand, Jie Yin, Gabriel Cuéllar-Partida, Wei Wang, Thomas J. Hoffmann, K. Saidas Nair, Pirro G. Hysi, Salil A. Lachke, Eric Jorgenson

Nature Communications · 2021

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Summary

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 candidate

Source type
Peer-reviewed study
DOI
10.1038/s41467-021-23873-8
Catalogue ID
SNmojad3d9-vxaiiy
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