Investigating the genetic complexity of glaucoma

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    Abstract

    Glaucoma is an age-related chronic eye disease that damages the optic nerve, a cranial nerve that
    is pivotal for vision. Primary open-angle glaucoma (POAG) represents the most prevalent type of
    this disease and its prevalence varies between populations. It ranges from 1 to 4% in Europe and
    from 2 to 7% in African countries in adults aged 40 years and over. The condition is asymptomatic
    in its early stages, a peculiarity that explains why most of the cases are initially unaware of having
    this disease and are left undiagnosed. Many risk factors for POAG have been recognised. The
    most widely acknowledged include: advanced age, elevated intraocular pressure, having African
    descent, positive family history of glaucoma, and thin central corneal thickness. Genetic studies
    conducted in twins, families, and populations revealed that POAG is a heterogeneous complex
    disease with a large heritable component. So far, despite the vast and constantly increasing genetic
    investigation, the identified loci explain only 10% of POAG risk, predominately in European and
    Asian populations. For this reason, in individuals of African ancestry most of the variants already
    identified do not seem to play a role in the disease, which suggests a population-specific genetic
    architecture. Clearly, there is still a large portion of missing and hidden heritability to be found.
    The aim of the research presented here was to investigate different genetic risk factors contributing
    to glaucoma susceptibility that may explain part of the missing heritability. The sources of these
    risk factors included the analysis of ethnic risk, common variants, mutations, variations in copy
    number in the nuclear and analysis of mitochondrial genome.
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    Supervisors/Advisors
    • Jansonius, Nomdo, Supervisor
    • Bergen, Arthur A. B., Supervisor, External person
    • Snieder, Harold, Supervisor
    Award date1-Jun-2022
    Place of Publication[Groningen]
    Publisher
    DOIs
    Publication statusPublished - 2022

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