The role of admixture in the rare variant contribution to inflammatory bowel disease.

ABSTRACT:

Background

Identification of rare variants involved in complex, polygenic diseases like Crohn's disease (CD) has accelerated with the introduction of whole exome/genome sequencing association studies. Rare variants can be used in both diagnostic and therapeutic assessments; however, since they are likely to be restricted to specific ancestry groups, their contributions to risk assessment need to be evaluated outside the discovery population. Prior studies implied that the three known rare variants in NOD2 are absent in West African and Asian populations and only contribute in African Americans via admixture.

Methods

Whole genome sequencing (WGS) data from 3418 African American individuals, 1774 inflammatory bowel disease (IBD) cases, and 1644 controls were used to assess odd

SUBMITTER: Astore C 

PROVIDER: S-EPMC10647102 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature