Genetic Studies in Inflammatory Bowel Disease
(Genetisch onderzoek bij inflammatoire darmziekten)
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Inflammatory bowel disease (IBD) is an idiopathic chronic gastrointestinal disease with genetic susceptibility playing an important role 1. This is further explored in this thesis. The initiative for this thesis started within the departments of Gastroenterology and Hepatology, and Internal Medicine of the Erasmus MC University Medical Centre Rotterdam (UMCR). The primary research goal was to explore aspects of the genetic aetiology of IBD by searching for mutations in inflammation-related genes in patients with IBD. Many IBD-affected patients and (non-)affected relatives were recruited to set up a clinical and genetic IBD database. Initially, the research protocol focused on cytokine (receptor) genes. This focus was extended to research on other polymorphic genes based on new findings in the literature. We have mainly focused on mutations within the interleukin-10 (IL-10) and caspase recruitment domain 15 (CARD15) genes, with emphasis on their prevalence, biological (dys)function, and association with disease phenotypes. Furthermore, genetic anticipation in IBD was studied.
Kuipers, Prof. Dr. E.J. (promotor)
Wilson, Prof. J.H.P. (promotor)
Hitachi Medical Systems B.V.
Boston Scientific Benelux B.V.
Sanofi-Aventis Netherlands B.V.
Solvay Pharma B.V.
Roche Nederland B.V.
- crohns disease
- bowel disease
- card 15 mutations
- il -10 gene
- l 1007fs