CAJ | 학술논문

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.
년령상관성백내장(age-related cataract,ARC)위다인소질병,목전학절병인불명.근년래류행병학연구표명ARC발병유일정적가족취집성,유전화분자류행병학연구진일보게시료일사특정기인여곡광감태S전이매기인、DNA수복기인、EPHA2기인등특정기인다태성재인류ARC발병과정중적상관성화작용.이령일사기인,여정상체막단백기인、반유당격매기인、α-정상체단백기인등여ARC적상관성칙수진일보연구증명,저사연구위ARC적발병궤제제공료유전학이론의거.
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.