国际眼科纵览 ›› 2013, Vol. 37 ›› Issue (2): 117-122.doi: 10.3760/cma.j.issn.1673-5803.2013.02.010

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年龄相关性白内障遗传流行病学研究进展

 唐雅婷,  卢奕   

  1. 200031 上海, 复旦大学附属眼耳鼻喉科医院眼科
  • 收稿日期:2012-12-10 出版日期:2013-04-22 发布日期:2013-05-03
  • 通讯作者: 卢奕, Email: luyi_eent@yahoo.com.cn
  • 基金资助:

    上海市卫生局新百人计划(XBR2011056)

The genetic epidemiology of agerelated cataract

 TANG  Ya-Ting,   Lu-Yi   

  1.  Department of Ophthalmology, Eye & ENT Hospital of Fudan University, Shanghai 200031, China
  • Received:2012-12-10 Online:2013-04-22 Published:2013-05-03
  • Contact: LU Yi, Email: luyi_eent@yahoo.com.cn

摘要: 【摘要】年龄相关性白内障(agerelated cataract, ARC)为多因素疾病,目前确切病因不明。近年来流行病学研究表明ARC发病有一定的家族聚集性,遗传和分子流行病学研究进一步揭示了一些特定基因如谷胱甘肽S转移酶基因、DNA修复基因、EPHA2基因等特定基因多态性在人类ARC发病过程中的相关性和作用。而另一些基因,如晶状体膜蛋白基因、半乳糖激酶基因、α-晶状体蛋白基因等与ARC的相关性则需进一步研究证明,这些研究为ARC的发病机制提供了遗传学理论依据。(国际眼科纵览, 2013, 37: 117-122)

Abstract: 【Abstract】The exact etiology of agerelated cataract (ARC) is still unknown. Epidemiological studies have documented tendency for ARC to occur more frequently in relatives of  patients having cataract. Genetic and molecular epidemiologic studies have also showed polymorphisms of specific genes that are associated with and have impact on the development of ARC such as glutathione Stransferase (GST) genes, DNA repair genes and EPHA2 gene. For other genes such as lens membrane protein genes, galactokinase gene and αcrystallin gene, the correlations with ARC need to be further evaluated. All of these studies provide a gene\|based theory basis for ARC etiology. In this article, we reviewed the recent related studies.  (Int Rev Ophthalmol, 2013, 37: 117-122)