A frameshift variant in the SIRPB1 gene confers susceptibility to Crohn's disease in a Chinese population.

ABSTRACT: Background: Crohn's disease (CD), a chronic gastrointestinal inflammatory disease, is increasing in China. With a focus on Han Chinese families with CD, the aim of this study was to find genetic variations that increase CD susceptibility by genome sequencing, genetic association, expression, and functional research. Materials and methods: We performed family-based genome sequencing (WGS) analysis on 24 patients with CD from 12 families and then filtered shared potential causal variants by incorporating association results from meta-analyses of CD GWAS and immunology genes and in silico variant effect prediction algorithms. Replication analyses were performed in an independent cohort including 381 patients with CD and 381 control subjects. Results: There were 92

SUBMITTER: Tang J 

PROVIDER: S-EPMC10267704 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature