A Missense Variant in PTPN22 is a Risk Factor for Drug-induced Liver Injury.

ABSTRACT:

Background & aims

We performed genetic analyses of a multiethnic cohort of patients with idiosyncratic drug-induced liver injury (DILI) to identify variants associated with susceptibility.

Methods

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.

Results

We associated idiosyncratic DILI with rs2476601, a nonsynonymous polymorphism that encodes a substitution of tryptophan with arginine in the protein tyrosine phosphatase, nonrecepto

SUBMITTER: Cirulli ET 

PROVIDER: S-EPMC6511989 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature