title: Association study of functional genetic variants of innate immunity related genes in celiac disease.
abstract: BACKGROUND
  Recent evidence suggest that the innate immune system is implicated in the early events of celiac disease (CD) pathogenesis. In this work for the first time we have assessed the relevance of different proinflammatory mediators typically related to innate immunity in CD predisposition.
  
  
  METHODS
  We performed a familial study in which 105 celiac families characterized by the presence of an affected child with CD were genotyped for functional polymorphisms located at regulatory regions of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes. Familial data was analysed with a transmission disequilibrium test (TDT) that revealed no statistically significant differences in the transmission pattern of the different genetic markers considered.
  
  
  RESULTS
  The TDT analysis for IL-1alpha, IL-1beta, IL-1RN, IL-18, and MCP-1 genes genetic variants did not reveal biased transmission to the affected offspring. Only a borderline association of RANTES promoter genetic variants with CD predisposition was observed.
  
  
  CONCLUSIONS
  Our results suggest that the analysed polymorphisms of IL-1alpha, IL-1beta, IL-1RN, IL-18, RANTES and MCP-1 genes do not seem to play a major role in CD genetic predisposition in our population.
authors.affiliation: Instituto de Parasitología y Biomedicina López-Neyra, CSIC, Granada, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Rueda
authors.forename: A
authors.initials: A
authors.lastname: Zhernakova
authors.forename: M A
authors.initials: MA
authors.lastname: López-Nevot
authors.forename: J
authors.initials: J
authors.lastname: Martín
authors.forename: B P C
authors.initials: BP
authors.lastname: Koeleman
mesh_terms: D002446:Celiac Disease / Q000235:genetics*; D018932:Chemokine CCL2 / Q000235:genetics; D018946:Chemokine CCL5 / Q000235:genetics; D002648:Child; D005260:Female; D005796:Genes / Q000235:genetics / Q000502:physiology*; D014644:Genetic Variation / Q000235:genetics / Q000502:physiology*; D005838:Genotype; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics / Q000502:physiology*; D007375:Interleukin-1 / Q000235:genetics; D020382:Interleukin-18 / Q000235:genetics; D008297:Male; D005810:Multigene Family / Q000235:genetics
chemical_list: D018932:Chemokine CCL2; D018946:Chemokine CCL5; D007375:Interleukin-1; D020382:Interleukin-18