CED – Von der Genetik zum Krankheitsverständnis

Familial clustering is well established for both Crohn’s disease and ulcerative colitis. At the same time, environmental factors play an important role as demonstrated by the substantial increase in incidence over the last 50 years. Therefore, inflammatory bowel disease (IBD) is a “complex genetic disorder”, i.e. the disease risk is conferred by a combination of genetic predisposition and environmental triggers. For Crohn’s disease, the best replicated and functionally interpretable risk genes include NOD2/CARD15 – an intracellular receptor for bacterial products, ATG16L1 – a gene of the autophagy system and IL23R – the receptor for interleukin 23. The key result of genetic research in IBD is a new pathogenetic concept for the CED as an inflammatory disorder based on a genetically determined barrier defect. This concept and the availability of the underlying molecular mechanisms are likely to enable new therapeutic and prevention concepts.