Association of NOD2/CARD15 mutations on Crohn's disease phenotype in an Italian population

Vera Bianchi, Giovanni Maconi, Sandro Ardizzone, Elisabetta Colombo, Elisa Ferrara, Antonio Russo, Maria Luisa Tenchini, Gabriele Bianchi Porro

Research output: Contribution to journalArticlepeer-review

Abstract

AIMS: To confirm the prevalence of NOD2/CARD15 mutations in Italian inflammatory bowel disease patients and to define the role of the different mutations on Crohn's disease phenotype. PATIENTS AND METHODS: A total of 177 patients with Crohn's disease and 92 patients with ulcerative colitis and 164 control participants were investigated for the presence of Arg702Trp, Gly908Arg and Leu1007fsinsC NOD2/CARD15 mutations.Allele frequencies in Crohn's disease and ulcerative colitis patients were compared with those observed in the control population. Genotype-phenotype correlations with the major clinical features were also established and estimated risks (odds ratio with 95% confidence interval) for the mutations were calculated by logistic regression and multiple correspondent analysis. RESULTS: Gly908Arg and Leu1007fsinsC mutations were significantly more frequent in Crohn's disease patients compared with healthy controls (P

Original languageEnglish
Pages (from-to)217-223
Number of pages7
JournalEuropean Journal of Gastroenterology and Hepatology
Volume19
Issue number3
DOIs
Publication statusPublished - Mar 2007

Keywords

  • Crohn's disease
  • Genotype-phenotype correlation
  • NOD2/CARD15 mutations
  • Ulcerative colitis

ASJC Scopus subject areas

  • Gastroenterology

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