英国伦敦国王学院Pirro G. Hysi等研究人员合作利用542,934名欧洲血统人群的荟萃分析,鉴定了诱发屈光不正和近视的新基因与新机制。该研究于2020年3月30日在线发表于《自然—遗传学》。
Title: Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia
Author: Pirro G. Hysi, Hlne Choquet, Anthony P. Khawaja, Robert Wojciechowski, Milly S. Tedja, Jie Yin, Mark J. Simcoe, Karina Patasova, Omar A. Mahroo, Khanh K. Thai, Phillippa M. Cumberland, Ronald B. Melles, Virginie J. M. Verhoeven, Veronique Vitart, Ayellet Segre, Richard A. Stone, Nick Wareham, Alex W. Hewitt, David A. Mackey, Caroline C. W. Klaver, Stuart MacGregor, Peng T. Khaw, Paul J. Foster, Jeremy A. Guggenheim, Jugnoo S. Rahi, Eric Jorgenson, Christopher J. Hammond
Issue&Volume: 2020-03-30
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.
DOI: 10.1038/s41588-020-0599-0
Source: https://www.nature.com/articles/s41588-020-0599-0
Nature Genetics:《自然—遗传学》,创刊于1992年。隶属于施普林格·自然出版集团,最新IF:25.455
官方网址:https://www.nature.com/ng/
投稿链接:https://mts-ng.nature.com/cgi-bin/main.plex