Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population

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Anja Ernst1, Bent Jacobsen, Mette Østergaard

  • 1Department of Clinical Biochemistry, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark. ae@rn.dk

Scandinavian Journal of Gastroenterology
|September 14, 2007
PubMed

Insights

Genetic mutations in CARD15 increase Crohn's disease risk in Denmark. The 1007insC mutation was most common, and ileal involvement was higher in patients with these CARD15 mutations.

Area of Science:

  • Gastroenterology
  • Genetics
  • Human disease genetics

Background:

  • Three CARD15 mutations predispose to Crohn's disease in Caucasians.
  • Investigating CARD15 mutation frequency in a Danish population is crucial.

Purpose of the Study:

  • To determine the frequency of CARD15 mutations in Danish patients with inflammatory bowel disease (IBD) and healthy controls.
  • To assess the association between CARD15 mutations and Crohn's disease, ulcerative colitis, and smoking status.

Main Methods:

  • Real-time PCR genotyping of three common CARD15 mutations in 388 Crohn's disease patients, 565 ulcerative colitis patients, and 796 healthy controls.
  • Comparison of allele and genotype frequencies.
  • Examination of potential additive effects of smoking on CARD15 mutations.

Main Results:

  • CARD15 mutations were significantly more prevalent in Crohn's disease patients (21%) than in healthy controls (10%).
  • A gene-dosage effect was observed, with increased risk associated with carrying one or two CARD15 mutations.
  • The 1007insC mutation was the primary contributor; ileal involvement was more common in Crohn's disease patients with CARD15 mutations.

Conclusions:

  • CARD15 mutations are associated with Crohn's disease in the Danish population, supporting a genetic component.
  • Smoking is an independent risk factor for Crohn's disease, but no multiplicative effect with CARD15 genotypes was found.
  • Future research may lead to genetic testing for Crohn's disease diagnosis and treatment.
Abstract

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