Evaluation of cytokine polymorphisms (TNF alpha, IFN gamma and IL-10) in Down patients with coeliac 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 TNF alpha, IFN gamma and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. Methods. Single nucleotide polymorphisms of TNF alpha (-308G --> A promoter region), IFN gamma (+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 anti transglutaminase 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 IFN gamma and IL-10 polymorphisms in the studied groups. A significant trend for increase of TNF alpha -308A positive frequency was observed in coeliac disease-Down syndrome patients compared to healthy controls (p = 0.043). Conclusions. Single nucleotide polymorphisms of IFN gamma and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNF alpha -308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21. (C) 2005 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.