NOD2/CARD15gene mutations in North Algerian patients with inflammatory bowel disease

摘要: AIM: To analyse allelic frequency of NOD2 gene variants and to assess their correlation with inflammatory bowel disease (IBD) in Algeria. METHODS: We studied 132 unrelated patients diagnosed IBD, 86 Crohn’s (CD) 46 ulcerative colitis (UC). Data was prospectively collected between January 2011 December 2013. The demographic clinical characteristics were recorded for all the patients. A group 114 healthy individuals selected as controls. All groups originated from different regions North Algeria confirmed Algerian origin parents grandparents. Informed written consent obtained each participants. genotyped three CD-associated (p.Arg702Trp, p.Gly908Arg p.Leu1007fsinsC mutations) using polymerase chain reaction-restriction fragment length polymorphism method. Allele genotype frequencies control subjects compared by χ2 test Fisher’s exact where appropriate. Odds ratios (OR) 95% confidence intervals (95%CI) also estimated. Association analyses performed study influence these on IBD phenotypes. RESULTS: p.Arg702Trp mutation showed highest CD (8%) UC (2%) (P = 0.09, OR 3.67, 95%CI: 0.48-4.87) controls (5%) 0.4, 1.47, 0.65-3.31). In HC 3% vs 2% 0.5, 1.67, 0.44-6.34); 1% 0.4 2.69 0.48-14.87 respectively). patients, 1, 1.62, 0.17-4.74) 0.32, 0.39, 0.05-2.87). total mutated chromosomes higher (13%), than (5%). addition, linked a particular sub-phenotype this cohort. As expected, significant association but did not reach statistical significance, despite fact that allele range found most European populations. This might be due non-exposure carriers environmental factors, required expression disease. CONCLUSION: Further are necessary genetic factors population, larger patient groups.