Genetic origin of Dupuytren’s disease and associated fibromatosis

Guido Dolmans

    Research output: ThesisThesis fully internal (DIV)

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    Abstract

    The aetiology of Dupuytren’s disease (DD) has still not been fully elucidated. A genetic influence on the development of this disease has been suggested. The aim of this thesis was to investigate the genetic background of DD and its associated fibromatosis. This knowledge could lead to a better understanding of the disease and might lead to alternative treatments.
    After studying the mode of inheritance of familial DD, we carried out a genome-wide association study in order to identify common genetic variants associated with this disease. This study yielded genome-wide significant associations at nine different loci and found genes in the Wnt-signaling pathway, suggesting that abnormalities in this pathway are key to the process of fibromatosis in DD.
    We then examined if the nine DD susceptibility loci were also involved in Peyronie’s Disease (PD). We found a significant association at one of the DD susceptibility loci (WNT2 locus), thus providing evidence that PD and DD share genetic susceptibility factors. Finally, we found that patients with certain DD diathesis features were likely to have a higher risk score (based on the nine SNPs identified).
    The research work in this thesis represents a major leap forward in the study of the genetics of DD. However, there is still a lot of effort needed to fully dissect the origin of DD.
    Translated title of the contributionGenetische origine van de ziekte van Dupuyren en geassocieerde fibromatosen
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    Supervisors/Advisors
    • Werker, Paul, Supervisor
    • Wijmenga, Cisca, Supervisor
    • Ophoff, R. A., Supervisor, External person
    Award date24-Nov-2014
    Place of Publication[S.l.]
    Publisher
    Print ISBNs978-90-367-7154-2
    Electronic ISBNs978-90-367-7153-5
    Publication statusPublished - 2014

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