Brief Reports
Copyright ©2005 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Gastroenterol. Jan 21, 2005; 11(3): 407-411
Published online Jan 21, 2005. doi: 10.3748/wjg.v11.i3.407
NOD2/CARD15 gene polymorphism in patients with inflammatory bowel disease: Is Hungary different?
Carsten Büning, Tomas Molnar, Ferenc Nagy, Janos Lonovics, Renita Weltrich, Bettina Bochow, Janine Genschel, Hartmut Schmidt, Herbert Lochs
Carsten Büning, Renita Weltrich, Bettina Bochow, Janine Genschel, Hartmut Schmidt, Herbert Lochs, Department of Gastroenterology, Hepatology & Endocrinology, Charité, Campus Mitte, Berlin, Germany
Tomas Molnar, Ferenc Nagy, Janos Lonovics, 1st Department of Medicine, Faculty of Medicine, University of Szeged, Hungary
Author contributions: All authors contributed equally to the work.
Correspondence to: Dr. Carsten Büning, Department of Gastroenterology, Hepatology & Endocrinology, Charité Campus Mitte, Schumannstrasse 20/21, 10117 Berlin, Germany. carsten.buening@charite.de
Telephone: +49-30-450614 237
Received: May 25, 2004
Revised: May 27, 2004
Accepted: July 17, 2004
Published online: January 21, 2005
Abstract

AIM: To analyse the impact of NOD2/CARD15 mutations on the clinical course of Crohn’s disease patients from an eastern European country (Hungary).

METHODS: We investigated the prevalence of the three common NOD2/CARD15 mutations (Arg702Trp, Gly908Arg, 1007finsC) in 148 patients with Crohn’s disease, 128 patients with ulcerative colitis and 208 controls recruited from the University of Szeged, Hungary. In patients with Crohn’s disease, the prevalence of NOD2/CARD15 mutations was correlated to the demographical and clinical parameters.

RESULTS: In total, 32.4% of Crohn’s disease patients carried at least one mutant allele within NOD2/CARD15 compared to 13.2% of patients with ulcerative colitis (P = 0.0002) and to 11.5% of controls (P<0.0001). In Crohn’s disease patients, the allele frequencies for Arg702Trp, Gly908Arg and 1007finsC were 7.1%, 3.0% and 10.8% respectively. Interestingly, only the 1007finsC mutation was associated with a distinct clinical phenotype. The patients positive for the 1007finsC mutation suffered more frequently from stenotic disease (P = 0.008). Furthermore, 51.9% of patients positive for the 1007finsC mutation underwent a surgical resection within the ileum compared to only 17.4% of patients without the 1007finsC mutation (P = 0.001). With respect to the other two mutations (Arg702Trp and Gly908Arg), no associations were found with all investigated clinical parameters.

CONCLUSION: NOD2/CARD15 mutations are frequently found in Crohn’s disease patients from Hungary. The 1007finsC mutation is associated with stenotic disease behaviour and frequent ileal resections.

Keywords: Crohn’s disease; NOD2/CARD15 gene; Mutation