Whole-Exome Sequencing Identifies a Variant in Phosphatidylethanolamine N-Methyltransferase Gene to be Associated With Lean-Nonalcoholic Fatty Liver Disease.

ABSTRACT:

Background and aim

Nonalcoholic fatty liver disease (NAFLD) is a spectrum of liver diseases with simple steatosis on one end and hepatocellular carcinoma on the other. Although obesity is a known risk factor for NAFLD, individuals with normal body mass index (BMI) also have hepatic fatty infiltration, now termed "lean-NAFLD". It represents a distinct entity with a strong underlying genetic component. The present study aimed to sequence the complete exonic regions of individuals with lean-NAFLD to identify germline causative variants associated with disrupted hepatic fatty acid metabolism, thereby conferring susceptibility to NAFLD.

Methods

Whole blood was collected from patients with lean-NAFLD (n = 6; BMI < 23.0 kg/m²) and matched lean controls (n = 2; discovery

SUBMITTER: Bale G 

PROVIDER: S-EPMC6823660 | biostudies-literature | 2019 Sep-Oct

REPOSITORIES: biostudies-literature