Z Gastroenterol 2006; 44 - P_12
DOI: 10.1055/s-2006-955482

Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease – results of a prospective study

J Seiderer 1, S Brand 1, KA Herrmann 2, F Schnitzler 1, R Hatz 3, A Crispin 4, S Pfennig 1, SO Schoenberg 2, B Göke 1, P Lohse 5, T Ochsenkühn 1
  • 1Department of Internal Medicine II – Grosshadern, University of Munich, Germany;
  • 2Department of Radiology – Grosshadern, University of Munich, Germany
  • 3Department of Surgery – Grosshadern, University of Munich, Germany
  • 4Department of Medical Informatics, Biometry, and Epidemiology, University of Munich, Germany
  • 5Department of Clinical Chemistry – Grosshadern, University of Munich, Germany

Background/Aim: The diagnostic and therapeutic relevance of CARD15 genotyping in Crohn's disease (CD) has not been investigated so far. We therefore performed a prospective study analyzing whether CARD15 variants are independent predictive factors for small bowel stenosis in CD with potential implications for patient management. Methods: Eighty CD patients with clinical symptoms suggestive of a small bowel stenosis were included. All patients were genotyped for the CARD15 variants c.2104C>T (p.R702W), c.2722G>C (p.G908R), and c.3019_3020insC (p.Leu1007fsX1008), and were examined by magnetic resonance enteroclysis (MRE) of the small bowel. Results: CARD15 variants were found in 40 patients (50%). MRE identified 31 patients (38%) with small bowel stenoses. Twenty-five of the 40 patients (62%) with at least one CARD15 variant were diagnosed of intestinal stenosis by MRE (OR=9.44; CI: 3.21–27.77; p=0.00028, Bonferroni-corrected). Particularly the presence of the 1007fs variant was associated with an increased risk of an intestinal stenosis (OR 12.00, CI 3.47–41.54, p=0.00042, Bonferroni-corrected). Twenty-one of 31 patients (68%) with stenoses required surgical intervention with 13 of these 21 patients (62%) carrying the 1007fs variant. Conclusion: CARD15 variant 1007fs was identified as a strong predictor for intestinal stenoses with need for surgery in CD patients. Genotyping could therefore be an important diagnostic tool for identifying high-risk patients with specific diagnostic and therapeutic needs.