Wang Yu-Meng, Lu Shi-Yao, Zhang Xiu-Juan, Chen Li-Jia, Pang Chi-Pui, Yam Jason C
Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
Department of Ophthalmology, Guangzhou First People's Hospital, School of Medicine, South China University of Technology, Guangzhou 510006, China.
Children (Basel). 2022 Mar 9;9(3):382. doi: 10.3390/children9030382.
Myopia is the most common eye condition leading to visual impairment and is greatly influenced by genetics. Over the last two decades, more than 400 associated gene loci have been mapped for myopia and refractive errors via family linkage analyses, candidate gene studies, genome-wide association studies (GWAS), and next-generation sequencing (NGS). Lifestyle factors, such as excessive near work and short outdoor time, are the primary external factors affecting myopia onset and progression. Notably, besides becoming a global health issue, myopia is more prevalent and severe among East Asians than among Caucasians, especially individuals of Chinese, Japanese, and Korean ancestry. Myopia, especially high myopia, can be serious in consequences. The etiology of high myopia is complex. Prediction for progression of myopia to high myopia can help with prevention and early interventions. Prediction models are thus warranted for risk stratification. There have been vigorous investigations on molecular genetics and lifestyle factors to establish polygenic risk estimations for myopia. However, genes causing myopia have to be identified in order to shed light on pathogenesis and pathway mechanisms. This report aims to examine current evidence regarding (1) the genetic architecture of myopia; (2) currently associated myopia loci identified from the OMIM database, genetic association studies, and NGS studies; (3) gene-environment interactions; and (4) the prediction of myopia via polygenic risk scores (PRSs). The report also discusses various perspectives on myopia genetics and heredity.
近视是导致视力损害的最常见眼部疾病，且受遗传因素的影响很大。在过去二十年中，通过家族连锁分析、候选基因研究、全基因组关联研究（GWAS）和下一代测序（NGS），已定位了400多个与近视和屈光不正相关的基因座。生活方式因素，如近距离工作时间过长和户外活动时间过短，是影响近视发生和发展的主要外部因素。值得注意的是，近视除了成为一个全球健康问题外，在东亚人中比在白种人中更为普遍和严重，尤其是华裔、日裔和韩裔个体。近视，尤其是高度近视，可能会产生严重后果。高度近视的病因复杂。预测近视进展为高度近视有助于预防和早期干预。因此，需要建立预测模型进行风险分层。目前已经对分子遗传学和生活方式因素进行了大量研究，以建立近视的多基因风险评估。然而，必须确定导致近视的基因，以便阐明发病机制和通路机制。本报告旨在研究有关以下方面的现有证据：（1）近视的遗传结构；（2）目前从在线人类孟德尔遗传数据库（OMIM）、遗传关联研究和NGS研究中确定的与近视相关的基因座；（3）基因-环境相互作用；（4）通过多基因风险评分（PRS）预测近视。本报告还讨论了关于近视遗传学和遗传的各种观点。
