Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

ABSTRACT: The genetic features of founder populations with recent bottlenecks, causing some deleterious variants to rise to higher frequencies, can enhance the power of rare variant association studies. French Canadians from Quebec represent a recent founder population with a particular disease heritage comprising more than 30 prevalent Mendelian conditions. Here, we characterize coding variation in this founder population using exome sequencing data from 2,820 French-Canadian participants - patients with inflammatory bowel diseases (IBD), parents and controls from the Quebec IBD cohort. We find that 18% of rare coding variants are 10-100 times more frequent than in non-Finnish Europeans (NFE). A total of 4,133 missense and loss-of-function variants were significantly enriched with a median 28-fold

SUBMITTER: Bherer C 

PROVIDER: S-EPMC12338899 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature