{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cirulli ET"],"funding":["NCATS NIH HHS","NIDDK NIH HHS","NCRR NIH HHS","NHLBI NIH HHS","Medical Research Council","National Heart, Lung, and Blood Institute","National Institute for Health Research (NIHR)","Wellcome Trust"],"pagination":["1707-1716.e2"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6511989"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["156(6)"],"pubmed_abstract":["<h4>Background & aims</h4>We performed genetic analyses of a multiethnic cohort of patients with idiosyncratic drug-induced liver injury (DILI) to identify variants associated with susceptibility.<h4>Methods</h4>We performed a genome-wide association study of 2048 individuals with DILI (cases) and 12,429 individuals without (controls). Our analysis included subjects of European (1806 cases and 10,397 controls), African American (133 cases and 1,314 controls), and Hispanic (109 cases and 718 controls) ancestry. We analyzed DNA from 113 Icelandic cases and 239,304 controls to validate our findings.<h4>Results</h4>We associated idiosyncratic DILI with rs2476601, a nonsynonymous polymorphism that encodes a substitution of tryptophan with arginine in the protein tyrosine phosphatase, nonrecepto"],"journal":["Gastroenterology"],"pubmed_title":["A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury."],"pmcid":["PMC6511989"],"funding_grant_id":["N02-HL-64278","U01 DK065201","N01 HC095166","N01 HC095165","N01 HC095168","N01 HC095167","MR/L006758/1","N01 HC095169","NF-SI-0512-10064","N01 HC095160","UL1 RR025747","N01 HC095162","N01 HC095161","N01 HC095164","N01 HC095163","UL1 RR024156","U01 DK065184","UL1 RR025761","MR/N005953/1","U01 DK065211","UL1 TR002240","U01 DK065176","U01 DK083023","U01 DK083020","UL1 TR001855","U01 DK083027","U01 DK100928","U01 DK082992","U24 DK065176","N01 HC095159","U01 DK065238","N02HL64278","UL1 RR024986","U01 DK065193"],"pubmed_authors":["Abramson K","Stefansson K","Maitland-van der Zee A","Bjornsson ES","Day CP","Kullak-Ublick GA","Chalasani N","International DILI consortium (iDILIC)","Long N","Wadelius M","Aithal GP","Qin S","Watkins PB","Cascorbi I","Odin JA","Laitinen T","Drug-Induced Liver Injury Network (DILIN) investigators","Rafnar T","Stolz A","Dillon JF","Ibanez L","Bessone F","Nicoletti P","Bjornsson E","Fontana RJ","Hernandez N","Lucena MI","Li YJ","Pirmohamed M","Andrade RJ","Molokhia M","Hallberg P","Nelson MR","Daly AK","Menzies D","Cirulli ET","Larrey D","Martin JH","Serrano J"],"additional_accession":[]},"is_claimable":false,"name":"A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury.","description":"<h4>Background & aims</h4>We performed genetic analyses of a multiethnic cohort of patients with idiosyncratic drug-induced liver injury (DILI) to identify variants associated with susceptibility.<h4>Methods</h4>We performed a genome-wide association study of 2048 individuals with DILI (cases) and 12,429 individuals without (controls). Our analysis included subjects of European (1806 cases and 10,397 controls), African American (133 cases and 1,314 controls), and Hispanic (109 cases and 718 controls) ancestry. We analyzed DNA from 113 Icelandic cases and 239,304 controls to validate our findings.<h4>Results</h4>We associated idiosyncratic DILI with rs2476601, a nonsynonymous polymorphism that encodes a substitution of tryptophan with arginine in the protein tyrosine phosphatase, nonrecepto","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 May","modification":"2026-05-04T23:33:29.314Z","creation":"2020-10-29T14:04:50Z"},"accession":"S-EPMC6511989","cross_references":{"pubmed":["30664875"],"doi":["10.1053/j.gastro.2019.01.034"]}}