The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.

ABSTRACT:

Background and aims

To study the role of gene mutations in the development of severe hypertriglyceridemia (HTG) in patients with hyperlipidemic acute pancreatitis (HLAP), especially different apolipoprotein A5 (APOA5) mutations.

Methods

Whole-exome sequencing was performed on 163 patients with HLAP and 30 patients with biliary acute pancreatitis (BAP). The pathogenicity of mutations was then assessed by combining clinical information, predictions of bioinformatics programs, information from multiple gene databases, and residue location and conservation. The pathogenic mutations of APOA5 were visualized using the software.

Results

1. Compared with BAP patients, pathogenic mutations of APOA5 were frequent in HLAP patients; among them, the heterozygous mutation of p.G185

SUBMITTER: Liu Y 

PROVIDER: S-EPMC10851583 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature