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CED – Von der Genetik zum Krankheitsverständnis

CED – From genetics to new disease concepts

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Der Gastroenterologe Aims and scope

Zusammenfassung

Sowohl für den M. Crohn als auch die Colitis ulcerosa ist eine familiäre Häufung gut dokumentiert. Gleichzeitig gibt es klare Belege für Umweltfaktoren, deutlichster Hinweis ist hier sicher der Anstieg der Inzidenz in den letzten 50 Jahren. Damit sind die CED „komplexe genetische Erkrankungen“, das heißt, das Erkrankungsrisiko wird durch eine Kombination mehrerer genetischer sowie durch Umweltfaktoren bestimmt. Für den M. Crohn sind die am besten replizierten und funktionell verstandenen Risikogene NOD2/CARD15 – ein intrazellulärer Rezeptor für bakterielle Produkte, ATG16L1 – ein Gen des Autophagiesystems und IL23R, der Rezeptor für Interleukin 23. Wesentlichstes Ergebnis der genetischen Forschungen ist ein neues pathogenetisches Krankheitskonzept für die CED als entzündliche Erkrankungen, die auf einem genetisch determinierten Barrieredefekt beruhen. Dieses Konzept und die Verfügbarkeit der molekularen Mechanismen werden neue Therapie- und Präventionskonzepte ermöglichen.

Abstract

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.

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  1. Klinik für Allgemeine Innere Medizin, Universitätsklinikum Schleswig-Holstein, Schittenhelmstraße 12, 24105, Kiel, Deutschland

    J. Hampe

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Hampe, J. CED – Von der Genetik zum Krankheitsverständnis. Gastroenterologe 2, 406–413 (2007). https://doi.org/10.1007/s11377-007-0115-4

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  • DOI: https://doi.org/10.1007/s11377-007-0115-4

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