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Association of T Helper 1 Cytokine Gene Single Nucleotide Polymorphisms with Ulcerative Colitis and Crohn's Disease.

Dig Dis; 37(1): 21-32, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30134230


Inflammatory bowel disease (IBD) mostly comprised of Crohn's disease (CD) and ulcerative colitis (UC) is a condition arising from the combined effects of genetic, environmental, and immunological factors. IBD is associated with inflammation and altered cytokine profile.


This study was aimed at assessing the association between T helper type 1 (Th1) cytokine polymorphisms (interferon gamma [IFN-γ] +874 A/T, interleukin-12 [IL-12] -1188 A/C, IL-2 -330 G/T, IL-2 +166 G/T) and susceptibility to and clinical features of IBD.


The study population was composed of 75 IBD patients (40 CD patients and 35 UC patients) and 140 healthy controls. Genotyping was performed using polymerase chain reaction with sequence-specific primers.


The A allele of IFN-γ +874 polymorphism was overrepresented in the whole population of patients with IBD (OR 1.63; 95% CI 1.08-2.47; p = 0.020) and as well in the subpopulation of patients with CD (OR 2.14; 95% CI 1.26-3.63; p = 0.004), but not in UC. Multiple pairwise comparisons indicated that genotypes of single nucleotide polymorphisms (SNPs) within the IL-2 and IFN-γ genes are correlated with IBD, CD, and UC, while neither allele nor genotype frequency of th1 IL-12 -1188 polymorphism was associated with IBD, CD, or UC. Haplotype analysis also revealed that the presence of IL-2 -330/+166 TG haplotype versus the remaining haplotypes (GG, TT, and GT) is a protective factor against IBD (OR 0.62; p = 0.046).


The present study reports (for the first time) significant associations between SNPs within the IFN-γ and IL-2 genes and IBD.