Genome-wide association studies in the hunt for genes causing primary open-angle glaucoma: a review

Authors

  • Kathryn P Burdon PhD

    Corresponding author
    1. Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia
      Dr Kathryn Burdon, Department of Ophthalmology, Flinders University, GPO Box 2100, Adelaide, SA, Australia. Email: Kathryn.burdon@flinders.edu.au
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  • Conflict/competing interest: None declared.

  • Funding sources: National Health and Medical Research Council Career Development Award.

Dr Kathryn Burdon, Department of Ophthalmology, Flinders University, GPO Box 2100, Adelaide, SA, Australia. Email: Kathryn.burdon@flinders.edu.au

Abstract

Genome-wide association studies are a powerful tool for the identification of genetic risk factors for complex disease. This methodology has been successfully applied to primary open-angle glaucoma through the analysis of primary open-angle glaucoma (POAG) as well as specific subgroups of patients including those with normal tension glaucoma and advanced glaucoma. In addition, the analysis of quantitative traits important in POAG, including optic disc area and vertical cup-to-disc ratio has also identified genes important in POAG development. This review explores findings of genome-wide association studies for POAG and related traits.

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