A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.

ABSTRACT:

Background & aims

Non-alcoholic fatty liver disease (NAFLD), and its progressive form steatohepatitis (NASH), represent a genetically and phenotypically diverse entity for which there is no approved therapy, making it imperative to define the spectrum of pathways contributing to its pathogenesis. Rare variants in genes encoding nuclear envelope proteins cause lipodystrophy with early-onset NAFLD/NASH; we hypothesized that common variants in nuclear envelope-related genes might also contribute to hepatic steatosis and NAFLD.

Methods

Using hepatic steatosis as the outcome of interest, we performed an association meta-analysis of nuclear envelope-related coding variants in three large discovery cohorts (N >120,000 participants), followed by phenotype association studies in larg

SUBMITTER: Upadhyay KK 

PROVIDER: S-EPMC10618955 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature