Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease.

ABSTRACT:

Objective

Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date.

Design

We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression i

SUBMITTER: Zheng T 

PROVIDER: S-EPMC8292596 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature