IL-10 gene promoter region polymorphisms and their association with celiac disease.

Introduction: in celiac disease (CD), immune response activation results in local cytokine network impairment. Interleukin 10 (IL-10) is a key anti-inflammatory cytokine in the prevention of inflammatory conditions.

Objective: to analyze the association of single nucleotide polymorphisms in the IL-10 gene promoter region with CD in a population of Misiones Province, Argentina.

Patients And Methods: DNA from whole blood was extracted from 40 patients with CD and 80 controls and the IL-10 gene promoter region containing polymorphisms rs1800896A/G, rs1800871T/C and rs1800872A/C was amplified. Risk was established by calculating odds ratios (OR) and statistical significance was considered as p < 0.05.

Results: there were no significant differences in rs1800896 genotype distribution between celiac patients and controls. The frequency of the CC genotype for rs1800871T/C and rs1800872A/C was lower among celiac patients (35 % vs 65 %; p = 0.002). CD risk was associated with carriers of the more uncommon T allele of rs1800871T/C and the more uncommon A allele of rs1800872A/C, with a dominant model (OR = 2.79; 95 % CI: 1.27-6.09; p = 0.01). A risk effect was found for haplotype ATA (OR = 3.05; 95 % CI: 1.25-7.46; p = 0.01).

Conclusion: carriers of the less common T allele of rs1800871T/C and the less common A allele of rs1800872A/C in the IL-10 gene promoter are at high risk of CD with a dominant model. There was no risk for rs1800896A/G. The ATA haplotype showed an association with CD development.