{"doi":"10.1101/2020.09.23.20200428","title":"A multiethnic GWAS meta-analysis of 585,243 individuals identifies new risk loci associated with cataract and reveals sex-specific effects","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.","journal":"medRxiv","year":2020,"id":127400,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.93,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":232030,"name":"Ronald B. Melles","orcid":"0000-0003-1027-4083","position":1,"is_corresponding":false},{"id":576130,"name":"Deepti Anand","orcid":"0000-0003-1720-9962","position":2,"is_corresponding":false},{"id":14718,"name":"Jie Yin","orcid":"0000-0002-4990-0777","position":3,"is_corresponding":false},{"id":256429,"name":"Gabriel Cuéllar-Partida","orcid":"0000-0001-7648-4097","position":4,"is_corresponding":false},{"id":576131,"name":"Wei Wang","orcid":"0000-0002-5273-3332","position":5,"is_corresponding":false},{"id":233928,"name":"Thomas J. Hoffmann","orcid":"0000-0001-6893-4449","position":6,"is_corresponding":false},{"id":350356,"name":"K. Saidas Nair","orcid":"0000-0001-5309-9727","position":7,"is_corresponding":false},{"id":116273,"name":"Pirro G. Hysi","orcid":"0000-0001-5752-2510","position":8,"is_corresponding":false},{"id":499776,"name":"Salil A. Lachke","orcid":"0000-0001-8845-010X","position":9,"is_corresponding":false},{"id":5238,"name":"Eric Jorgenson","orcid":"0000-0002-5829-8191","position":10,"is_corresponding":false},{"id":14651,"name":"Hélène Choquet","orcid":"0000-0001-9839-8667","position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-18T23:15:30.930746Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}