Exome sequencing identifies novel genetic variants associated with varicose veins.

ABSTRACT:

Background

Varicose veins (VV) are one of the common human diseases, but the role of genetics in its development is not fully understood.

Methods

We conducted an exome-wide association study of VV using whole-exome sequencing data from the UK Biobank, and focused on common and rare variants using single-variant association analysis and gene-level collapsing analysis.

Findings

A total of 13,823,269 autosomal genetic variants were obtained after quality control. We identified 36 VV-related independent common variants mapping to 34 genes by single-variant analysis and three rare variant genes (PIEZO1, ECE1, FBLN7) by collapsing analysis, and most associations between genes and VV were replicated in FinnGen. PIEZO1 was the closest gene associated with VV (P = 5.05 × 10-31

SUBMITTER: Zhang DD 

PROVIDER: S-EPMC11233024 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature