Role of CARD15, DLG5 and OCTN genes polymorphisms in children with inflammatory bowel diseases.

ABSTRACT:

Aim

To investigate the contribution of variants of CARD15, OCTN1/2 and DLG5 genes in disease predisposition and phenotypes in a large Italian cohort of pediatric patients with inflammatory bowel diseases (IBD).

Methods

Two hundred patients with Crohn's disease (CD), 186 ulcerative colitis (UC) patients, 434 parents (217 trios), and 347 healthy controls (HC) were studied. Polymorphisms of the three major variants of CARD15, 1672C/T and -207G/C SNPs for OCTN genes, IGR2096a_1 and IGR2198a_1 SNPs for the IBD5 locus, and 113G/A variant of the DLG5 gene were evaluated. Potential correlations with clinical sub-phenotypes were investigated.

Results

Polymorphisms of CARD15 were significantly associated with CD, and at least one variant was found in 38% of patients (15% in HC,

SUBMITTER: Cucchiara S 

PROVIDER: S-EPMC4146997 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature