Nature and nurture: the complex genetics of myopia and refractive error.
Nature and nurture: the complex genetics of myopia and refractive error.
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DOI：
10.1111/j.1399-0004.2010.01592.x
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发表时间：
2011-04
影响因子：
3.5
通讯作者：
Wojciechowski R
中科院分区：
文献类型：
--
作者：
Wojciechowski R
屈光不正，近视和远视，是视觉系统的光学缺陷，可导致视力模糊。未矫正的屈光不正是全世界最常见的视力损害原因。据估计，在未来十年内，仅近视一项就将影响25亿人。实验、流行病学和临床研究表明，屈光发育受环境和遗传因素的双重影响。动物模型表明，婴儿时期的眼睛生长和屈光成熟受到视觉引导机制的严格调节。人群观察数据提供了令人信服的证据，表明环境影响和个体行为因素在近视易感性中起着至关重要的作用。然而，人群中屈光不正的大部分变异被认为是由于遗传因素。遗传连锁研究已经绘制了24个基因座，而关联研究则表明，超过25种不同的基因与折射变化有关。这些基因中的许多都参与了已知的介导细胞外基质组成和调节结缔组织重塑的常见生物学途径。其他相关的基因组区域提示了人类近视病因的新机制，如线粒体介导的细胞死亡或光受体介导的视觉信号传递。总的来说，观察和实验研究揭示了人类屈光变化的复杂性，这可能涉及几个基因和功能途径的变异。基因和/或环境因素之间的多向相互作用也可能是决定个体近视风险的重要因素，并可能有助于解释人类屈光不正的复杂模式。
The refractive errors, myopia and hyperopia, are optical defects of the visual system that can cause blurred vision. Uncorrected refractive errors are the most common causes of visual impairment worldwide. It is estimated that 2.5 billion people will be affected by myopia alone with in the next decade. Experimental, epidemiological and clinical research has shown that refractive development is influenced by both environmental and genetic factors. Animal models have demonstrated that eye growth and refractive maturation during infancy are tightly regulated by visually-guided mechanisms. Observational data in human populations provide compelling evidence that environmental influences and individual behavioral factors play crucial roles in myopia susceptibility. Nevertheless, the majority of the variance of refractive error within populations is thought to be due to hereditary factors. Genetic linkage studies have mapped two dozen loci, while association studies have implicated more than 25 different genes in refractive variation. Many of these genes are involved in common biological pathways known to mediate extracellular matrix composition and regulate connective tissue remodeling. Other associated genomic regions suggest novel mechanisms in the etiology of human myopia, such as mitochondrial-mediated cell death or photoreceptor-mediated visual signal transmission. Taken together, observational and experimental studies have revealed the complex nature of human refractive variation, which likely involves variants in several genes and functional pathways. Multiway interactions between genes and/or environmental factors may also be important in determining individual risks of myopia, and may help explain the complex pattern of refractive error in human populations.
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