Inflammatory bowel disease: The genetic background and beyond

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    Inflammatory bowel diseases (IBD) such as Crohn's disease (CD) and ulcerative colitis (UC) are partially heritable and partially environmentally determined diseases and are characterized by a chronically relapsing inflammation of the gut. Probably an aberrant immune response to commensal microflora of the bowel together with a diminished integrity of the wall is culprit to this serious disease. More insight in the pathogenesis is essential.
    By screening DNA for risk areas, there are up until now 163 of such areas associated to increased disease risk, with which we can explain 15-25% of the heritability. In this thesis we investigate a number of potential sources of this hidden heritability.
    There might be more risk areas for IBD. We analyzed a number of strategically selected areas and identified two new risk areas for IBD, in another study we found altered risk for a UC and CD gene.
    Further, more of the heritability might be explained with the known risk areas. Potentially the same genetic code has a different effect to disease risk when inherited from the father or the mother. We tested the overlapping IBD risk areas and found limited evidence for such effects.
    Further we investigated what the effects of a number of risk areas is on a cellular level in immune cells. We could not find this relation, however we found a difference between healthy individuals and patients.
    We contributed to the identification of new risk areas on the DNA for IBD and investigated other potential sources for the hidden heritability.
    Translated title of the contributionInflammatoire darm ziekten: De genetische achtergrond en verder
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    • Wijmenga, Cisca, Supervisor
    • Weersma, Rinse, Supervisor
    • van Diemen, Cleo, Co-supervisor
    Award date16-Jun-2014
    Place of Publication[S.l.]
    Print ISBNs978-90-367-6881-8
    Electronic ISBNs978-90-367-6882-5
    Publication statusPublished - 2014


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