Genetics and epidemiology of glaucoma and myopia

    Research output: ThesisThesis fully internal (DIV)

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    Abstract

    This PhD research focused on the role of genes and underlying molecular mechanisms underlying the pathogenesis of glaucoma. Based on a systematic review of family-based studies, it was found, among other things, that glaucoma is 65 to 81 percent hereditary. This underlines the importance of screening relatives of glaucoma patients. For the development of such screenings, it was investigated which genes initiate glaucoma by which mechanism. Using previously identified genetic variants and bioinformatics databases, glaucoma candidate genes were ranked in order of their relevance/causality and the mechanisms how they initiate the disease process were identified. In addition to the traditional parameters, new other parameters have been identified that, in addition, which may be important for the screening of glaucoma. Finally, a cost-effective and less time-consuming proxy for myopia has been developed and validated.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    Supervisors/Advisors
    • Snieder, Harold, Supervisor
    • Jansonius, Nomdo, Supervisor
    Award date30-Nov-2021
    Place of Publication[Groningen]
    Publisher
    DOIs
    Publication statusPublished - 2021

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