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Genetic basis for increased intestinal permeability in families with Crohn's disease: role of CARD15 3020insC
S Buhner1, C Buning, J Genschel
1Department of Gastroenterology, Hepatology, and Endocrinology, Campus Charité Mitte, Charité-Universitätsmedizin Berlin, Schumannstr 20-21, 10117 Berlin, Germany. sabine.buehner@charite.de
Gut
|July 8, 2005
Summary
Genetic mutations in the CARD15 gene, specifically the 3020insC variant, are linked to increased intestinal permeability in Crohn's disease relatives. This suggests a genetic predisposition to impaired gut barrier function in families with inflammatory bowel disease.
Area of Science:
- Gastroenterology
- Genetics
- Immunology
Background:
- Impaired intestinal barrier function is a suspected predisposing factor for Crohn's disease (CD).
- Mutations in the caspase recruitment domain family, member 15 (CARD15) gene have been identified and associated with CD.
- The study hypothesizes a link between CARD15 mutations and impaired intestinal barrier function.
Purpose of the Study:
- To investigate the association between CARD15 gene polymorphisms and intestinal permeability in patients with Crohn's disease and their relatives.
- To determine if genetic factors influence intestinal barrier function in families with a history of inflammatory bowel disease (IBD).
Main Methods:
- Studied 128 quiescent CD patients, 129 first-degree relatives (CD-R), 66 non-related household members (CD-NR), and 96 healthy controls.
- Analyzed three common CARD15 polymorphisms: R702W, G908R, and 3020insC.
- Measured intestinal permeability using the lactulose/mannitol ratio.
Main Results:
- Intestinal permeability was significantly higher in CD patients and their relatives (CD-R) compared to CD-NR and controls.
- Increased permeability was observed in 44% of CD patients and 26% of CD-R, versus 6% of CD-NR and 0% of controls.
- First-degree relatives with the CARD15 3020insC mutation showed increased intestinal permeability (40%), particularly those with combined 3020insC and R702W mutations (75%).
Conclusions:
- High mucosal permeability in healthy first-degree relatives is associated with the CARD15 3020insC mutation.
- This finding suggests that genetic factors play a role in the impairment of intestinal barrier function within families affected by IBD.
- The study highlights a potential genetic predisposition to gut barrier dysfunction in families with Crohn's disease.
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