Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.

ABSTRACT:

Background & aims

Genome-wide association studies (GWAS) have identified 140 Crohn's disease (CD) susceptibility loci. For most loci, the variants that cause disease are not known and the genes affected by these variants have not been identified. We aimed to identify variants that cause CD through detailed sequencing, genetic association, expression, and functional studies.

Methods

We sequenced whole exomes of 42 unrelated subjects with CD and 5 healthy subjects (controls) and then filtered single nucleotide variants by incorporating association results from meta-analyses of CD GWAS and in silico mutation effect prediction algorithms. We then genotyped 9348 subjects with CD, 2868 subjects with ulcerative colitis, and 14,567 control subjects and associated variants analyzed i

SUBMITTER: Ellinghaus D 

PROVIDER: S-EPMC3753067 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature