Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.

ABSTRACT: Genome-wide association studies (GWASs) have identified hundreds of loci associated with Crohn's disease (CD). However, as with all complex diseases, robust identification of the genes dysregulated by noncoding variants typically driving GWAS discoveries has been challenging. Here, to complement GWASs and better define actionable biological targets, we analyzed sequence data from more than 30,000 patients with CD and 80,000 population controls. We directly implicate ten genes in general onset CD for the first time to our knowledge via association to coding variation, four of which lie within established CD GWAS loci. In nine instances, a single coding variant is significantly associated, and in the tenth, ATG4C, we see additionally a significantly increased burden of very rare coding varia

SUBMITTER: Sazonovs A 

PROVIDER: S-EPMC9700438 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature