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大规模荟萃分析鉴定出影响屈光不正和近视的新基因
2020-03-31 16:35
来源：小柯机器人

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》。

研究人员进行了全基因组关联研究（GWAS）的荟萃分析，涉及542,934名欧洲参与者，并确定了336个与屈光不正相关的新型遗传基因座。所有相关的遗传变异共同解释了18.4％的遗传力，并提高了近视预测的准确性（曲线下面积（AUC）= 0.75）。
 
研究结果表明，屈光不正在遗传上是具有异质性的，由参与眼睛每个解剖结构发育的基因所影响。此外，分析表明，控制昼夜节律和色素沉着的遗传因素也与近视和屈光不正的发展有关。这些结果可能促进屈光不正的预测和未来个性化近视预防策略的研发。
 
据悉，屈光不正，尤其是近视，是全世界发病率和残疾的主要原因。遗传研究可以增进对异常眼睛发育和视力受损分子机制的了解。
 
附：英文原文

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：41.307
官方网址：https://www.nature.com/ng/
投稿链接：https://mts-ng.nature.com/cgi-bin/main.plex


本期文章：《自然—遗传学》：Online/在线发表

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