Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.

ABSTRACT: Currently, the best clinical predictor for inflammatory bowel disease (IBD) is family history. Over 163 sequence variants have been associated with IBD in genome-wide association studies, but they have weak effects and explain only a fraction of the observed heritability. It is expected that additional variants contribute to the genomic architecture of IBD, possibly including rare variants with effect sizes larger than the identified common variants. Here we applied a family study design and sequenced 38 individuals from five families, under the hypothesis that families with multiple IBD-affected individuals harbor one or more risk variants that (i) are shared among affected family members, (ii) are rare and (iii) have substantial effect on disease development. Our analysis revealed not on

SUBMITTER: Stittrich AB 

PROVIDER: S-EPMC4785573 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature