From the *Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon, Hong Kong; and †Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.
Asia Pac J Ophthalmol (Phila). 2016 Jul-Aug;5(4):236-44. doi: 10.1097/APO.0000000000000224.
Myopia is a major cause of visual impairment worldwide. In particular, high myopia is associated with serious blinding complications, including retinal detachment, chorioretinal degeneration, and choroidal neovascularization. Myopia is multifactorial in etiology, resulting from the interaction of environmental and genetic risk factors. During the past 2 decades, a large number of gene loci and variants have been identified for myopia. There are more than 20 myopia-associated loci spanning all chromosomes. Earlier findings were obtained mainly from family linkage analyses and candidate gene studies, and more recent results are principally from genome-wide association studies and exome sequencing. Some genetic associations have been successfully validated and replicated in populations of different geographic localities and ethnicities, but some have not. Compared with Whites, Asian populations-in particular Japanese, Korean, and Chinese-have a much higher prevalence of myopia, especially high myopia. Both genetic and environmental factors contribute to such ethnic variations. This review attempts to summarize and compare the allelic frequencies of gene variants known to be associated with myopia in different ethnic groups, especially in the Asia-Pacific region.
近视是全球范围内导致视力损害的主要原因。特别是高度近视与严重的致盲并发症有关，包括视网膜脱离、脉络膜视网膜变性和脉络膜新生血管形成。近视的病因是多因素的，是环境和遗传危险因素相互作用的结果。在过去的 20 年中，已经确定了大量与近视相关的基因座和变异体。有 20 多个近视相关的基因座跨越所有染色体。早期的发现主要来自于家系连锁分析和候选基因研究，而最近的结果主要来自于全基因组关联研究和外显子组测序。一些遗传关联已在不同地理区域和种族的人群中得到成功验证和复制，但也有一些没有。与白种人相比，亚洲人群——特别是日本人、韩国人和中国人——的近视患病率更高，尤其是高度近视。遗传和环境因素都促成了这种种族差异。本综述试图总结和比较不同种族，特别是亚太地区与近视相关的基因变异体的等位基因频率。
