Interrogation of selected genes influencing serum LDL-Cholesterol levels in patients with well characterized NAFLD.

ABSTRACT:

Background

The clinical significance of rare mutations in LDL metabolism genes on nonalcoholic fatty liver disease (NAFLD) severity is not well understood.

Objective

To examine the significance of mutations in LDL metabolism genes including apolipoprotein B (APOB), proprotein convertase subtilisin kexin 9 (PCSK9) and LDL receptor (LDLR) in patients with NAFLD.

Methods

Patients with biopsy-confirmed NAFLD from the NASH Clinical Research Network studies were stratified into 3 groups of LDL-C (≤50 mg/dL, 130-150 mg/dL, ≥ 190 mg/dL) and then 120 (40 per group) were randomly selected from the strata. We examined the presence of mutations on LDL genes and analyzed its association with selected NAFLD-related features. Multivariable analyses were adjusted for age, race, gende

SUBMITTER: Vilar-Gomez E 

PROVIDER: S-EPMC8187295 | biostudies-literature | 2021 Mar-Apr

REPOSITORIES: biostudies-literature