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    Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.

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    Author
    Hysi, PG; Choquet, H; Khawaja, AP; Wojciechowski, R; Tedja, MS; Yin, J; Simcoe, MJ; Patasova, K; Mahroo, OA; Thai, KK; ...
    Date
    2020-04
    Source Title
    Nature Genetics
    Publisher
    Springer Science and Business Media LLC
    University of Melbourne Author/s
    Mackey, David
    Affiliation
    Ophthalmology (Eye & Ear Hospital)
    Metadata
    Show full item record
    Document Type
    Journal Article
    Citations
    Hysi, P. G., Choquet, H., Khawaja, A. P., Wojciechowski, R., Tedja, M. S., Yin, J., Simcoe, M. J., Patasova, K., Mahroo, O. A., Thai, K. K., Cumberland, P. M., Melles, R. B., Verhoeven, V. J. M., Vitart, V., Segre, A., Stone, R. A., Wareham, N., Hewitt, A. W., Mackey, D. A. ,... Hammond, C. J. (2020). Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.. Nat Genet, 52 (4), pp.401-407. https://doi.org/10.1038/s41588-020-0599-0.
    Access Status
    Access this item via the Open Access location
    URI
    http://hdl.handle.net/11343/254134
    DOI
    10.1038/s41588-020-0599-0
    Open Access URL
    http://orca.cf.ac.uk/128545/1/manuscript.pdf
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7145443
    Abstract
    Refractive errors, in particular myopia, are a leading cause of morbidity and disability worldwide. Genetic investigation can improve understanding of the molecular mechanisms that underlie abnormal eye development and impaired vision. We conducted a meta-analysis of genome-wide association studies (GWAS) that involved 542,934 European participants and identified 336 novel genetic loci associated with refractive error. Collectively, all associated genetic variants explain 18.4% of heritability and improve the accuracy of myopia prediction (area under the curve (AUC) = 0.75). Our results suggest that refractive error is genetically heterogeneous, driven by genes that participate in the development of every anatomical component of the eye. In addition, our analyses suggest that genetic factors controlling circadian rhythm and pigmentation are also involved in the development of myopia and refractive error. These results may enable the prediction of refractive error and the development of personalized myopia prevention strategies in the future.

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