High-frequency haplotypes in the X chromosome locus TLR8 are associated with both CD and UC in females.

ABSTRACT:

Background

TNF-alpha and IL-1 have been associated with mucosal inflammation in both Crohn's disease (CD) and ulcerative colitis (UC). Innate immune defects have been associated with CD, specifically CARD15/NOD2. Recently, Toll-like receptor 8 (TLR8) signaling has been shown to enhance generation of both cytokines. Interestingly, TLR8 is located on the X chromosome and inflammatory bowel disease (IBD) has been associated with abnormalities of the X chromosome. The aim was to test whether TLR8 haplotypes are associated with IBD.

Methods

Subjects (735 CD, 343 UC, 245 controls) were genotyped. Single nucleotide polymorphisms (SNPs) were chosen to tag common Caucasian haplotypes.

Results

Both "risk (H4)" and "protective (H1)" TLR8 haplotypes were observed associated with

SUBMITTER: Saruta M 

PROVIDER: S-EPMC2643315 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature