Transmission distortion in Crohn's disease risk gene ATG16L1 leads to sex difference in disease association.

ABSTRACT:

Background

Crohn's disease (CD), an inflammatory disease of the bowel, affects millions of people around the world. Evidence suggests that disease onset and pathogenesis differ between males and females. Yet no comprehensive efforts exist to assess the sex-specific genetic architecture of CD.

Methods

We used genotyping data from a cohort of 1748 CD cases and 2938 controls to investigate 71 meta-analysis-confirmed CD risk loci for sex differences in disease risk. We further validated the significant results in separate cohorts of 968 CD cases and 2809 controls, and performed a meta-analysis across datasets.

Results

The single nucleotide polymorphism (SNP) rs3792106 (C/T) in ATG16L1 showed a significant sex effect with P-value 6.9 × 10(-13) and allelic odds ratio 1.48 i

SUBMITTER: Liu LY 

PROVIDER: S-EPMC3165065 | biostudies-literature | 2012 Feb

REPOSITORIES: biostudies-literature