Copy number variation and expression of exportin-4 associates with severity of fibrosis in metabolic associated fatty liver disease.

ABSTRACT:

Background

Liver fibrosis risk is a heritable trait, the outcome of which is the net deposition of extracellular matrix by hepatic stellate cell-derived myofibroblasts. Whereas nucleotide sequence variations have been extensively studied in liver fibrosis, the role of copy number variations (CNV) in which genes exist in abnormal numbers of copies (mostly due to duplication or deletion) has had limited exploration.

Methods

The impact of the XPO4 CNV on histological liver damage was examined in a cohort comprised 646 Caucasian patients with biopsy-proven MAFLD and 170 healthy controls. XPO4 expression was modulated and function was examined in human and animal models.

Findings

Here we demonstrate in a cohort of 816 subjects, 646 with biopsy-proven metabolic associated l

SUBMITTER: Metwally M 

PROVIDER: S-EPMC8365315 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature