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    Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

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    20
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    Author
    Craig, JE; Han, X; Qassim, A; Hassall, M; Bailey, JNC; Kinzy, TG; Khawaja, AP; An, J; Marshall, H; Gharahkhani, P; ...
    Date
    2020-01-20
    Source Title
    Nature Genetics
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Ruddle, Jonathan; Mackey, David; Craig, Jamie; Hewitt, Alexander
    Affiliation
    Ophthalmology (Eye & Ear Hospital)
    Centre for Eye Research Australia (CERA)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Craig, J. E., Han, X., Qassim, A., Hassall, M., Bailey, J. N. C., Kinzy, T. G., Khawaja, A. P., An, J., Marshall, H., Gharahkhani, P., Igo, R. P., Graham, S. L., Healey, P. R., Ong, J. -S., Zhou, T., Siggs, O., Law, M. H., Souzeau, E., Ridge, B. ,... MacGregor, S. (2020). Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. NATURE GENETICS, 52 (2), pp.160-+. https://doi.org/10.1038/s41588-019-0556-y.
    Access Status
    Access this item via the Open Access location
    URI
    http://hdl.handle.net/11343/254012
    DOI
    10.1038/s41588-019-0556-y
    Open Access URL
    https://eprints.soton.ac.uk/439481/1/54764_3_merged_1574367373.pdf
    Abstract
    Glaucoma, a disease characterized by progressive optic nerve degeneration, can be prevented through timely diagnosis and treatment. We characterize optic nerve photographs of 67,040 UK Biobank participants and use a multitrait genetic model to identify risk loci for glaucoma. A glaucoma polygenic risk score (PRS) enables effective risk stratification in unselected glaucoma cases and modifies penetrance of the MYOC variant encoding p.Gln368Ter, the most common glaucoma-associated myocilin variant. In the unselected glaucoma population, individuals in the top PRS decile reach an absolute risk for glaucoma 10 years earlier than the bottom decile and are at 15-fold increased risk of developing advanced glaucoma (top 10% versus remaining 90%, odds ratio = 4.20). The PRS predicts glaucoma progression in prospectively monitored, early manifest glaucoma cases (P = 0.004) and surgical intervention in advanced disease (P = 3.6 × 10-6). This glaucoma PRS will facilitate the development of a personalized approach for earlier treatment of high-risk individuals, with less intensive monitoring and treatment being possible for lower-risk groups.

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