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NOD2/CARD15 gene mutations in North Algerian patients with inflammatory bowel disease

World Journal of Gastroenterology 2015年第25期21卷 7786-7794页

作者： Aziza Boukercha Hamida Mesbah-Amroun Amira Bouzidi Houria Saoula Mhamed Nakkemouche Maryline Roy Jean-Pierre Hugot Chafia Touil-Boukoffa Team Cytokines and NO Synthases Laboratory of Cellular and Molecular Biology Faculty of Biological Sciences University of Sciences and Technology Houari Boumediene Department of Gastroenterology Maillot University Hospital Team Intestinal Inflammation INSERM UMR1149 Xavier Bichat Faculty Paris Diderot University Department of Gastroenterology Robert Debré University Hospital

AIM: To analyse allelic frequency of NOD2 gene variantsand to assess their correlation with inflammatory bowel disease(IBD) in ***: We studied 132 unrelated patients diagnosed with IBD, 86 with Crohn's disease(CD) and 46 with ulcerative colitis(UC). Data was prospectively collected between January 2011 and December 2013. The demographic and clinical characteristics were recorded for all the patients. A group of 114 healthy unrelated individuals were selected as controls. All groups studied originated from different regions of North Algeria and confirmed the Algerian origin of their parents and grandparents. Informed and written consent was obtained from each of the participants. All individuals were genotyped for the three CDassociated NOD2 variants(***702 Trp, ***908 Arg and ***1007 fsins C mutations) using the polymerase chain reaction-restriction fragment length polymorphism method. Allele and genotype frequencies in patients and control subjects were compared by χ2 test and Fisher's exact test where appropriate. Odds ratios(OR) and 95% confidence intervals(95%CI) were also estimated. Association analyses were performed to study the influence of these variants on IBD and on clinical ***: The ***702 Trp mutation showed the highest frequency in CD patients(8%) compared to UC patients(2%)(P = 0.09, OR = 3.67, 95%CI: 0.48-4.87) and controls(5%)(P = 0.4, OR = 1.47, 95%CI: 0.65-3.31). In CD patients allelic frequencies of ***908 Arg and ***1007 fsins C variants compared to HC were 3% vs 2%(P = 0.5, OR = 1.67, 95%CI: 0.44-6.34); 2% vs 1%(P = 0.4 OR = 2.69 95%CI: 0.48-14.87 respectively). In UC patients, allelic frequencies of ***908 Arg and ***1007 fsins C variants compared to HC were 1% vs 2%(P = 1, OR = 1.62, 95%CI: 0.17-4.74) and 2% vs 1%(P = 0.32, OR = 0.39, 95%CI: 0.05-2.87). The total frequency of the mutated NOD2 chromosomes was higher in CD(13%), than in HC(8%) and UC(5%). In addition, NOD2 variants were linked to a par

关键词： Algeria Crohn's disease ulcerative colitis Inflammatory bowel disease NOD2 mutations polymerasechain reaction-restriction fragment length polymorphismmethod

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