P260 - Inflammatory bowel disease patients referred to the tertiary center in Republic of Tatarstan, Russia
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چکیده
s of the 4th Congress of ECCO the European Crohn’s and Colitis Organisation S113 families into Swedish and non-Swedish families in order to investigate for a population specific effect of the CLDN2 marker in the family-based approach. Only Swedish families preserved a significant association between the CLDN2 marker and CD (allelic OR = 2.95, 95% 0.99 8.83, p = 0.033). No associations were found between SNPs in CLDN1 or CLDN4 and disease phenotypes IBD, CD or ulcerative colitis. Conclusion: These findings suggest a genetically impaired intestinal epithelial barrier as a predisposing factor in the etiology of CD. P258 Serotonin transporter gene polymorphisms in Crohn’s disease patients K. Grubelic Ravic *, S. Čukovic Čavka, D. Anzulovic, M. Brinar, Ž. Krznarić, J. Sertic, N. Bozina, M. Rojnic Kuzman, B. Vucelić. University Hospital Zagreb, Zagreb, Croatia Background and Aims: Serotonin (5-HT) is an important factor in gut function, playing key roles in intestinal peristalsis, secretion, vasodilatation and sensory signalling. The serotoninselective reuptake transporter protein (SERT) terminates the action of 5-HT. Human SERT is encoded by a single gene on chromosome 17q11; two important polymorphic sites in the SERT gene are: variable number tandem repeats in the gene’s second intron (SERTin2), and an insertion/deletion in the promoter region (SERTPR). Consistent with the effects of 5-HT in the gut, SERT polymorphisms could potentially be involved in the development of IBD. The aim of this study was to evaluate the possible role of SERT polymorphisms in pathogenesis of CD. Methods: A total of 153 CD patients and 101 control were subjected to genotyping. DNA of all subjects was analysed by polymerase chain reaction (PCR). The association of genetic polymorphic variant SERTPR and SERTin2 polimorphic loci with the inflammatory bowel disease (CD patients) vs. controls was tested using program UNPHASED ver.3.0.10. A test for Hardy Weinberg equilibrium using Markov chain method (Guo and Thompson, 1992) implemented in Arlequin ver.3.01 (Excoffier et al., 2006) Chi squared test was used for comparisons of the allele and genotype frequencies among groups; log likelihood ratio tests were done to compare distributions of the estimated haplotypes among groups. Results: Genotype frequencies of the SERTPR LL, LS and SS in the CD patients and controls were 54, 82, 17 and 39, 44, 14, respectively. Genotype frequencies of the SERTin2 ll, ls and ss genotypes in the CD patients and controls were 56, 74, 24 and 46, 34, 20, respectively. No significant deviations from the expected Hardy Weinberg proportions were observed in the sample. Pair-wise comparisons of the allele, genotype and haplotype frequencies between CD patients and controls revealed no statistical differences for both loci. Table 1. Distribution of allele and genotype frequencies of SERTPR and SERTin2 between cases and controls
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