Center for Human Genetics, Duke University, Durham, NC 27710, USA.
Exp Eye Res. 2013 Sep;114:141-9. doi: 10.1016/j.exer.2012.12.015. Epub 2013 Feb 1.
Genetic studies of both population-based and recruited affected patient cohorts have identified a number of genomic regions and candidate genes that may contribute to myopic development. Scientists have developed animal models of myopia, as collection of affected tissues from patents is impractical. Recent advances in whole exome sequencing technology show promise for further elucidation of disease causing variants as in the recent identification of rare variants within ZNF644 segregating with pathological myopia. We present a review of the current research trends and findings on genetic contributions to myopic refraction including candidate loci for myopic development and their genomic convergence with expression studies of animal models inducing myopic development.
遗传研究无论是基于人群的还是招募的受影响患者队列，都已经确定了一些可能导致近视发展的基因组区域和候选基因。由于从患者中收集受影响的组织是不切实际的，科学家们已经开发了近视的动物模型。全外显子组测序技术的最新进展有望进一步阐明致病变异，最近在与病理性近视分离的 ZNF644 内稀有变异的鉴定中就是如此。我们对遗传对近视屈光的贡献的当前研究趋势和发现进行了综述，包括近视发展的候选基因座及其与诱导近视发展的动物模型表达研究的基因组趋同。
