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Meta-analysis of 542,934 subjects of European ancestry identifies 336 novel genes and mechanisms predisposing to refractive error and myopia

Hysi, Pirro G., Choquet, Helene, Khawaja, Anthony P., Wojciechowski, Robert, Tedja, Milly S., Yin, Jie, Simcoe, Mark J., Patasova, Karina, Mahroo, Omar A., Thai, Khanh K., Cumberland, Phillippa M., Melles, Ronald B., Verhoeven, Virginie J. M., Vitart, Veronique, Segre, Ayellet, Stone, Richard A., Wareham, Nick, Hewitt, Alex W., Mackey, David A., Klaver, Caroline C. W., McGregor, Stuart, The Consortium for Refractive Error and Myopia, Peng Khaw, Foster, Paul J., UK Eye and Vision Consortium, ., Guggenheim, Jeremy, andMe Inc, ., Rahi, Jugnoo S., Jorgenson, Eric and Hammond, Christopher J. 2020. Meta-analysis of 542,934 subjects of European ancestry identifies 336 novel genes and mechanisms predisposing to refractive error and myopia. Nature Genetics 52 , pp. 401-407. 10.1038/s41588-020-0599-0
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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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Publisher: Nature
ISSN: 1061-4036
Date of First Compliant Deposit: 14 January 2020
Date of Acceptance: 23 October 2019
Last Modified: 22 Apr 2020 17:13
URI: http://orca.cf.ac.uk/id/eprint/128545

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