Evaluation of cytokine polymorphisms (TNFα, IFNγ and IL-10) in Down patients with celiac disease

Background In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown. Aims To evaluate a possible correlation between TNFα, IFNγ and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. Methods Single nucleotide polymorphisms of TNFα (−308G → A promoter region), IFNγ (+874T → A promoter region) and IL-10 (−1082G → A promoter region) have been studied in 10 Down patients with coeliac disease, in 40 Down patients without coeliac disease and in 220 healthy controls. Clinical features were also studied in coeliac disease–Down syndrome patients. Results The 10 coeliac disease–Down syndrome patients had a biopsy proven coeliac disease afterward a serological testing positive to antigliadin, antiendomysium and antitransglutaminase antibodies. Intestinal biopsy showed total atrophy in 6/10 and partial villous atrophy in 4/10 of them. All coeliac disease–Down syndrome patients had silent forms of coeliac disease and classical trisomy 21. No significant differences were observed for the IFNγ and IL-10 polymorphisms in the studied groups. A significant trend for increase of TNFα −308A positive frequency was observed in coeliac disease–Down syndrome patients compared to healthy controls (p = 0.043). Conclusions Single nucleotide polymorphisms of IFNγ and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNFα −308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21.