DNA methylation pattern of TM6SF2 influences NAFLD progression in genotype-dependent manner

Abstract

Background and aims: Non-alcoholic fatty liver disease (NAFLD) arises due to complex interaction of genetic and environmental factors. Evidence suggests that transmembrane 6 superfamily member 2 (TM6SF2) E167K variant is associated with NAFLD susceptibility and progression. The loss of function mutation in TM6SF2 plays a pivotal role in hepatic lipid accumulation, however, it remains unknown if there is an interplay between genetic and epigenetic mechanisms modifying disease pathogenesis. In this study, we aimed to investigate whether epigenetic marks of TM6SF2 could affect development of hepatic steatosis and fibrosis.