遗传易感性与屈光不正的机制。
Genetic susceptibility and mechanisms for refractive error.
机构信息
Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA.
出版信息
Clin Genet. 2013 Aug;84(2):102-8. doi: 10.1111/cge.12180. Epub 2013 Jun 10.
Abstract
Refractive errors, myopia and hyperopia, are the most common causes of visual impairment worldwide. Recent advances in genetics have been utilized to identify a wealth of genetic loci believed to contain susceptibility genes for refractive error (RE). The current genetic evidence confirms that RE is influenced by both common and rare variants with a significant environmental component. These studies argue that only by combining genetic and environmental knowledge with in vivo measurements of biological states will it be possible to understand the underlying biology of RE that will lead to novel therapeutic targets and accurate genetic predictions.
摘要
屈光不正，包括近视和远视，是全球范围内导致视力损害的最常见原因。近年来，遗传学的发展已经被用于鉴定大量的遗传位点，这些遗传位点被认为包含了近视（RE）的易感基因。目前的遗传证据证实，RE 受到常见和罕见变异以及显著的环境因素的影响。这些研究表明，只有将遗传和环境知识与生物状态的体内测量相结合，才能了解 RE 的潜在生物学机制，从而为新的治疗靶点和准确的遗传预测提供依据。
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