IL23R haplotypes provide a large population attributable risk for Crohn's disease.

ABSTRACT:

Background

The IL-23 pathway plays a pivotal role in the development of chronic mucosal inflammation seen in the inflammatory bowel diseases. Multiple studies have now established the contribution of the interleukin 23 receptor gene (IL23R) to Crohn's disease (CD) risk in general and of the IL23R R381Q variant in particular. The aim of this work was to estimate the total contribution of this gene to CD risk test using a haplotype approach.

Methods

In all, 763 CD subjects and 254 controls were genotyped for single nucleotide polymorphisms in the IL23R gene using Illumina and ABI methods. Haplotypes were assigned using PHASEv2 and tested for association with CD by chi-square and permutation.

Results

Haplotypes with both increased and decreased risk for CD were observed

SUBMITTER: Taylor KD 

PROVIDER: S-EPMC2574614 | biostudies-literature | 2008 Sep

REPOSITORIES: biostudies-literature