{"doi":"10.1073/pnas.0903103106","title":"Potential etiologic and functional implications of genome-wide association loci for human diseases and traits","abstract":"We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs). Reported TASs were common [median risk allele frequency 36%, interquartile range (IQR) 21%-53%] and were associated with modest effect sizes [median odds ratio (OR) 1.33, IQR 1.20-1.61]. Among 20 genomic annotation sets, reported TASs were significantly overrepresented only in nonsynonymous sites [OR = 3.9 (2.2-7.0), p = 3.5 x 10(-7)] and 5kb-promoter regions [OR = 2.3 (1.5-3.6), p = 3 x 10(-4)] compared to SNPs randomly selected from genotyping arrays. Although 88% of TASs were intronic (45%) or intergenic (43%), TASs were not overrepresented in introns and were significantly depleted in intergenic regions [OR = 0.44 (0.34-0.58), p = 2.0 x 10(-9)]. Only slightly more TASs than expected by chance were predicted to be in regions under positive selection [OR = 1.3 (0.8-2.1), p = 0.2]. This new online resource, together with bioinformatic predictions of the underlying functionality at trait/disease-associated loci, is well-suited to guide future investigations of the role of common variants in complex disease etiology.","journal":"Proceedings of the National Academy of Sciences","year":2009,"id":6259,"datarank":19.406078677074163,"base_score":8.333270353255308,"endowment":8.333270353255308,"self_citation_contribution":1.2499905529882964,"citation_network_contribution":18.156088124085866,"self_endowment_contribution":1.2499905529882964,"citer_contribution":18.156088124085866,"corpus_percentile":89.8,"corpus_rank":2407,"citation_count":4159,"citer_count":191,"citers_with_citation_signal":191,"citers_with_endowment":191,"datacite_reuse_total":0,"is_dataset":false,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2009-06-09","authors":[{"id":58371,"name":"Praveen Sethupathy","orcid":"0000-0002-7983-239X","position":1,"is_corresponding":false},{"id":58372,"name":"Heather A. Junkins","orcid":null,"position":2,"is_corresponding":false},{"id":58373,"name":"Erin M. Ramos","orcid":"0000-0002-2210-325X","position":3,"is_corresponding":false},{"id":58374,"name":"Jayashri P. Mehta","orcid":null,"position":4,"is_corresponding":false},{"id":19902,"name":"Francis S. Collins","orcid":"0000-0002-1023-7410","position":5,"is_corresponding":false},{"id":2158,"name":"Teri A. Manolio","orcid":"0000-0001-5844-4382","position":6,"is_corresponding":false},{"id":21886,"name":"Andrew T. Hattersley","orcid":"0000-0001-5620-473X","position":0,"is_corresponding":true}],"reference_count":18,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","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,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}