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AIM:To examine the contribution of interleukin-10(IL-10)gene polymorphisms to Crohn’s disease(CD)phenotype,and the possible genetic epistasis betweenIL-10 gene polymorphisms and CARD15/NOD2 genemutations.METHODS:A cohort of 205 Spanish unrelated patientswith Crohn’s disease recruited from a single centerwas studied.All patients were rigorously phenotypedand followed-up for at least 3 years(mean time,12.5years).The clinical phenotype was established prior togenotyping.RESULTS:The correlat on of genotype-Viennaclassification groups showed that the ileocolonic locationwas significantly associated with the-1082G allele in theNOD2/CARD15 mutation-positive patients(RR=1.52,95%CI,1.21 to 1.91,P=0.008).The multivariate analysisdemonstrated that the IL-10 G14 microsatellite allelein the NOD2/CARD15 mutation positive patients wasassociated with two risk factors,history of appendectomy(RR=2.15,95%CI=1.1-4.30,P=0.001)and smokinghabit at diagnosis(RR=1.29,95%CI=1.04-4.3,P=0.04).CONCLUSION:In Spanish population from Madrid,inCD patients carrying at least one NOD2/CARD15 mutation,the-1082G allele is associated with ileocolonic disease and the IL-10G14 microsatellite allele is associated withprevious history of appendectomy and smoking habit atdiagnosis.These data provide further molecular evidencefor a genetic basis of the clinical heterogeneity of CD.
AIM: To examine the contribution of interleukin-10 (IL-10) gene polymorphisms to Crohn’s disease (CD) phenotype, and the possible genetic epistasis between IL-10 gene polymorphisms and CARD15 / NOD2 genemutations. METHODS: A cohort of 205 Spanish unrelated patientswith Crohn’s disease recruited from a single centerwas studied. All patients were rigorously phenotypedand followed-up for at least 3 years (mean time, 12.5years). The clinical phenotype was established prior to genotyping .RESULTS: The correlat on of genotype-Viennaclassification groups showed that the ileocolonic location was significantly associated with the-1082G allele in theNOD2 / CARD15 mutation-positive patients. The multivariate analysis demonstrated that the IL-10 G14 microsatellite allele in the NOD2 / CARD15 mutation positive patients wasassociated with two risk factors, history of appendectomy (RR = 2.15, 95% CI = 1.1-4.30, P = 0.001) and smokinghabit at diagnosis (RR = 1.29,95% CI = 1.04-4.3, P = 0.04 ) .CONCLUSION: In Spanis h population from Madrid, inCD patients carrying at least one NOD2 / CARD15 mutation, the-1082G allele is associated with ileocolonic disease and the IL-10G14 microsatellite allele is associated with previous history of appendectomy and smoking habit atdiagnosis.These data provide further molecular evidence for a genetic basis of the clinical heterogeneity of CD.