Investigation of 3020 insC mutation in the CARD15/NOD2 gene and cytokine gene polimorphisms with patients of inflammatory bowel diseases

Investigation of 3020 insC Mutation in the CARD15/NOD2 Gene and Cytokine Gene Polimorphisms with Patients of Inflammatory Bowel Diseases Inflammatory bowel diseases (IBD: MIM:601458), including Crohn Disease, (CD: MIM: 266600) and Ulcerative colitis (UC: MIM: 191390), appear as a result of the interaction between genetic and environmental factors; thus showing complex and genetic heterogeneous characteristics. With a purpose to identify the frequency of cytokine gene polymorphisms and also the mutation of 3020 insC of CARD 15 /NOD2 gene, an analysis was carried out to find out the mutation rates of the Turkish population: 69 cases with inflammatory bowel diseases [(18 cases with Crohn disease; (10 M, 8 F, ages 37±1 1 ); 51 Ulcerative colitis (24 M, 27 F, ages 37±12)]; and 50 healthy individuals (23 M, 27 F, ages 36 ±1 1) as the control group.In this study we used PCR based tecniques. In the Turkish population with inflammatory bowel diseases, the mutation rate of 3020 insC of CARD15 /NOD2 gene was IBD 28.9 %, CD 38 %, and UC 25% and the related rate was 4 % concerning the healthy individuals. When compared with the cytokine genes of healthy individuals, the frequency of cytokine gene polymorphism in inflammatory bowel diseases increased in genes IL-1 RA, İL- 4RA, TGFp and TNFa (p < 0.05) but decreased in genes IL -la, IL-lp, IL~ 12, IFN y, IL -2, IL- 4, IL- 6 and IL -10 (p< 0.05); in Crohn diseases it increased in genes IL-1, IL-4RA, and TNFa of (p < 0.05) but decreased in genes IL-1, IL-4RA, IFN-y, TGFp, TNF, IL-2, IL-4, IL-6 and IL-10; in Ulcerative colitis it increased in genes IL p, IL- 1 RA, IL- 4RA, IL-12, TGFp and TNFa (p< 0.05) but decreased in genes IL-la, IFN y, IL-2, IL-4, IL-6 and IL-10 (p< 0J5); there was no difference in other genes.In sum, in the Turkish population the mutation of 3020 insC of CARD15/NOD2 gene is not unique to Crohn disease, but this mutation is present in Ulcerative colitis as well. We are of the opinion that this mutation is not itself the only determining factor for clinical diagnoses; however, it can be used in the clinical diagnosis of IBD in order to determine the low level or high level variations in cytokine gene polymorphism.Key Words: Inflammatory Bowel Disease, Crohn Disease, Ulcerative Colitis, CARD15/NOD2 Gene, Cytokine Gene Polymorphism, PCR-SSP, Specific Multiplex PCR