title: Interleukin 10 promoter region polymorphisms in inflammatory bowel disease in Tunisian population.
abstract: OBJECTIVE
  To test whether IL-10 promoter region polymorphisms are associated with susceptibility to inflammatory bowel disease, we examined the contribution of interleukin- 10 (IL-10) gene polymorphisms to Crohn's disease (CD) and Ulcerative colitis disease (UC) occurrence and also to CD phenotype. MATERIELS AND METHODS: SNPs at positions -627 (C > A) and -1117 (G > A) in the IL-10 promoter were determined in a sample of 105 Tunisian patients with IBD (75 CD and 30 UC) and 90 matched healthy controls.
  
  
  RESULTS
  The 627 CA genotype is associated with ileal location (p = 0.015) and with stricturing (p = 510-3) and penetrating (p = 310-3) presentation of CD. An additive effect between IL10 variants and CARD15 3020 insC mutation (p = 0,006) on severe forms of CD was shown.
  
  
  CONCLUSIONS
  In Tunisian population, the 3020insC insertion in NOD2/CARD15 gene is a marker of susceptibility to CD, while the A allele at position -627 in the IL-10 promoter increases the risk of CD ileal location and severe disease presentation. A genetic epistasis between IL-10 gene polymorphisms and CARD15/NOD2 gene mutation was suggested.
authors.affiliation: Laboratoire de Génétique, Immunologie et Pathologies Humaines, Faculté des Sciences de Tunis, Tunisie. raja.triki@laposte.net
authors.forename: R
authors.initials: R
authors.lastname: Marrakchi
authors.forename: A
authors.initials: A
authors.lastname: Moussa
authors.forename: S
authors.initials: S
authors.lastname: Ouerhani
authors.forename: K
authors.initials: K
authors.lastname: Bougatef
authors.forename: R
authors.initials: R
authors.lastname: Bouhaha
authors.forename: Y
authors.initials: Y
authors.lastname: Messai
authors.forename: K
authors.initials: K
authors.lastname: Rouissi
authors.forename: I
authors.initials: I
authors.lastname: Khadimallah
authors.forename: H
authors.initials: H
authors.lastname: Khodjet-el-Khil
authors.forename: T
authors.initials: T
authors.lastname: Najar
authors.forename: A
authors.initials: A
authors.lastname: Benammar-Elgaaeid
mesh_terms: D000328:Adult; D017668:Age of Onset; D000818:Animals; D004198:Disease Susceptibility; D004843:Epistasis, Genetic; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics*; D016753:Interleukin-10 / Q000235:genetics*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D014416:Tunisia
chemical_list: C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D016753:Interleukin-10