{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Oetjens MT"],"funding":["NIGMS NIH HHS"],"pagination":["853-66"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5352965"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(8)"],"pubmed_abstract":["<h4>Aim</h4>We sought to identify potential pleiotropy involving pharmacogenes.<h4>Methods</h4>We tested 184 functional variants in 34 pharmacogenes for associations using a custom grouping of International Classification and Disease, Ninth Revision billing codes extracted from deidentified electronic health records of 6892 patients.<h4>Results</h4>We replicated several associations including ABCG2 (rs2231142) and gout (p = 1.73 × 10(-7); odds ratio [OR]: 1.73; 95% CI: 1.40-2.12); and SLCO1B1 (rs4149056) and jaundice (p = 2.50 × 10(-4); OR: 1.67; 95% CI: 1.27-2.20).<h4>Conclusion</h4>In this systematic screen for phenotypic associations with functional variants, several novel genotype-phenotype combinations also achieved phenome-wide significance, including SLC15A2 rs1143672 and renal oste"],"journal":["Pharmacogenomics"],"pubmed_title":["Evidence for extensive pleiotropy among pharmacogenes."],"pmcid":["PMC5352965"],"funding_grant_id":["T32 GM080178"],"pubmed_authors":["Bush WS","Verma A","Dilks HH","Kodaman N","Birdwell K","Oetjens MT","Crawford DC","Pendergrass SA","Denny JC","Ritchie MD"],"additional_accession":[]},"is_claimable":false,"name":"Evidence for extensive pleiotropy among pharmacogenes.","description":"<h4>Aim</h4>We sought to identify potential pleiotropy involving pharmacogenes.<h4>Methods</h4>We tested 184 functional variants in 34 pharmacogenes for associations using a custom grouping of International Classification and Disease, Ninth Revision billing codes extracted from deidentified electronic health records of 6892 patients.<h4>Results</h4>We replicated several associations including ABCG2 (rs2231142) and gout (p = 1.73 × 10(-7); odds ratio [OR]: 1.73; 95% CI: 1.40-2.12); and SLCO1B1 (rs4149056) and jaundice (p = 2.50 × 10(-4); OR: 1.67; 95% CI: 1.27-2.20).<h4>Conclusion</h4>In this systematic screen for phenotypic associations with functional variants, several novel genotype-phenotype combinations also achieved phenome-wide significance, including SLC15A2 rs1143672 and renal oste","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Jun","modification":"2026-05-05T19:30:54.269Z","creation":"2019-03-27T02:38:45Z"},"accession":"S-EPMC5352965","cross_references":{"pubmed":["27249515"],"doi":["10.2217/pgs-2015-0007"]}}