Wojciechowski Robert, Cheng Ching-Yu
Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Wilmer Eye Institute, Johns Hopkins School of Medicine, Baltimore, Maryland.
Retina. 2018 Jan;38(1):91-101. doi: 10.1097/IAE.0000000000001518.
The prevalence of myopia has increased dramatically worldwide within the last three decades. Recent studies have shown that refractive development is influenced by environmental, behavioral, and inherited factors. This review aims to analyze recent progress in the genetics of refractive error and myopia.
A comprehensive literature search of PubMed and OMIM was conducted to identify relevant articles in the genetics of refractive error.
Genome-wide association and sequencing studies have increased our understanding of the genetics involved in refractive error. These studies have identified interesting candidate genes. All genetic loci discovered to date indicate that refractive development is a heterogeneous process mediated by a number of overlapping biological processes. The exact mechanisms by which these biological networks regulate eye growth are poorly understood. Although several individual genes and/or molecular pathways have been investigated in animal models, a systematic network-based approach in modeling human refractive development is necessary to understand the complex interplay between genes and environment in refractive error.
New biomedical technologies and better-designed studies will continue to refine our understanding of the genetics and molecular pathways of refractive error, and may lead to preventative and therapeutic measures to combat the myopia epidemic.
在过去三十年中，近视在全球范围内的患病率急剧上升。最近的研究表明，屈光发育受环境、行为和遗传因素的影响。本综述旨在分析屈光不正和近视遗传学的最新进展。
对PubMed和OMIM进行全面的文献检索，以确定屈光不正遗传学方面的相关文章。
全基因组关联研究和测序研究增进了我们对屈光不正相关遗传学的理解。这些研究确定了一些有趣的候选基因。迄今为止发现的所有遗传位点均表明，屈光发育是一个由许多重叠的生物学过程介导的异质性过程。这些生物网络调节眼球生长的确切机制尚不清楚。尽管已经在动物模型中研究了几个单独的基因和/或分子途径，但有必要采用基于系统网络的方法来模拟人类屈光发育，以了解基因与环境在屈光不正中的复杂相互作用。
新的生物医学技术和设计更精良的研究将继续完善我们对屈光不正遗传学和分子途径的理解，并可能带来预防和治疗措施以应对近视流行。
