The ABCB4 p.T175A allele might be associated with increased liver injury: analysis of two independent cohorts of patients with chronic liver diseases and NAFLD

Introduction: Hepatic fibrosis represents the uniform response to chronic liver injury. Lately large-scale whole-genome sequencing identified the common variant c.711A>T of the hepatobiliary lecithin transporter ABCB4 as risk factor for hepatobiliary diseases and cirrhosis (Gudbjartsson et al. Nat Genet 2015). Thus we now assess this variant along with the less frequent procholestatic ABCB4 p.T175A mutation (Delaunay et al. Hepatology 2015) for their involvement in liver injury in two large cohorts of patients. Patients and methods: The first cohort comprised 678 patients (age 50.2 ± 12.7 years, 414 men) with ch…