IFNG rs1861494 polymorphism is associated with IBD disease severity and functional changes in both IFNG methylation and protein secretion.

ABSTRACT:

Background

Mucosal expression of interferon (IFN)-γ plays a pivotal role in the pathogenesis of inflammatory bowel disease (IBD) and IBD risk regions flank IFNG. The conserved IFNG rs1861494 T/C introduces a new CpG methylation site, is associated with disease severity and lack of therapeutic response in other infectious and immune-mediated disorders, and is in linkage disequilibrium with a ulcerative colitis (UC) disease severity region. It seems likely that CpG-altering single nucleotide polymorphisms modify methylation and gene expression. This study evaluated the association between rs1861494 and clinical, serologic, and methylation patterns in patients with IBD.

Methods

Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed

SUBMITTER: Gonsky R 

PROVIDER: S-EPMC4327845 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature