Genetic analysis of four consanguineous multiplex families with inflammatory bowel disease.

ABSTRACT:

Background

Family studies support a genetic predisposition to inflammatory bowel diseases (IBD), but known genetic variants only partially explain the disease heritability. Families with multiple affected individuals potentially harbour rare and high-impact causal variants. Long regions of homozygosity due to recent inbreeding may increase the risk of individuals bearing homozygous loss-of-function variants. This study aimed to identify rare and homozygous genetic variants contributing to IBD.

Methods

Four families with known consanguinity and multiple cases of IBD were recruited. In a family-specific analysis, we utilised homozygosity mapping complemented by whole-exome sequencing.

Results

We detected a single region of homozygosity shared by Crohn's disease cases fr

SUBMITTER: Ben-Yosef N 

PROVIDER: S-EPMC8677555 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature