近视分子遗传学的见解。
Insight into the molecular genetics of myopia.
作者信息
Li Jiali, Zhang Qingjiong
机构信息
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
出版信息
Mol Vis. 2017 Dec 31;23:1048-1080. eCollection 2017.
Myopia is the most common cause of visual impairment worldwide. Genetic and environmental factors contribute to the development of myopia. Studies on the molecular genetics of myopia are well established and have implicated the important role of genetic factors. With linkage analysis, association studies, sequencing analysis, and experimental myopia studies, many of the loci and genes associated with myopia have been identified. Thus far, there has been no systemic review of the loci and genes related to non-syndromic and syndromic myopia based on the different approaches. Such a systemic review of the molecular genetics of myopia will provide clues to identify additional plausible genes for myopia and help us to understand the molecular mechanisms underlying myopia. This paper reviews recent genetic studies on myopia, summarizes all possible reported genes and loci related to myopia, and suggests implications for future studies on the molecular genetics of myopia.
近视是全球视力损害的最常见原因。遗传和环境因素导致近视的发生。关于近视分子遗传学的研究已很成熟，并且已经表明了遗传因素的重要作用。通过连锁分析、关联研究、测序分析和实验性近视研究，已经确定了许多与近视相关的基因座和基因。到目前为止，还没有基于不同方法对非综合征性和综合征性近视相关的基因座和基因进行系统综述。这样一项关于近视分子遗传学的系统综述将为识别更多可能的近视相关基因提供线索，并帮助我们了解近视的分子机制。本文综述了近期关于近视的遗传学研究，总结了所有可能报道的与近视相关的基因和基因座，并对未来近视分子遗传学研究提出了启示。
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