title: Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.
abstract: BACKGROUND
  In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown.
  
  
  OBJECTIVE
  To evaluate a possible correlation between TNFalpha, IFNgamma and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients.
  
  
  METHODS
  Single nucleotide polymorphisms of TNFalpha (-308G-->A promoter region), IFNgamma (+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 IFNgamma and IL-10 polymorphisms in the studied groups. A significant trend for increase of TNFalpha -308A positive frequency was observed in coeliac disease-Down syndrome patients compared to healthy controls (p=0.043).
  
  
  CONCLUSIONS
  Single nucleotide polymorphisms of IFNgamma and IL-10 do not play a role in predisposing Down syndrome patients to coeliac disease, while the TNFalpha -308 allele could be an additional genetic risk factor for coeliac disease in trisomy 21.
authors.affiliation: Department of Pediatrics, University of Palermo, Italy. cescocat@freemail.it
authors.forename: F
authors.initials: F
authors.lastname: Cataldo
authors.forename: L
authors.initials: L
authors.lastname: Scola
authors.forename: M
authors.initials: M
authors.lastname: Piccione
authors.forename: M
authors.initials: M
authors.lastname: Giuffrè
authors.forename: A
authors.initials: A
authors.lastname: Crivello
authors.forename: G I
authors.initials: GI
authors.lastname: Forte
authors.forename: D
authors.initials: D
authors.lastname: Lio
authors.forename: G
authors.initials: G
authors.lastname: Corsello
mesh_terms: D000293:Adolescent; D002446:Celiac Disease / Q000150:complications / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D016207:Cytokines / Q000235:genetics; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D007371:Interferon-gamma / Q000235:genetics*; D016753:Interleukin-10 / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D016207:Cytokines; D014409:Tumor Necrosis Factor-alpha; D016753:Interleukin-10; D007371:Interferon-gamma