年龄相关性黄斑变性基因多态性研究的现状及存在问题  

Current situation and existing problems of gene polymorphisms in age-related macular degeneration

作　　者：王雨生[1] 叶子[1] 

机构地区：[1]第四军医大学西京医院眼科、全军眼科研究所,陕西省西安市710032

出　　处：《眼科新进展》2009年第9期641-644,共4页Recent Advances in Ophthalmology

基　　金：国家自然科学基金资助(编号:30371516,30672291);教育部留学回国人员科研启动基金资助(2004)~~

摘　　要：年龄相关性黄斑变性(age-related macular degeneration,AMD)是一种迟发性、进展性变性疾病,主要表现为黄斑区非感染性损伤,是导致50岁以上人群视力丧失的最常见原因之一。近期研究表明,遗传因素在AMD的发生中占有重要地位,且机体自身固有的免疫系统会影响AMD的病理进程。补体因子H会增加白种人罹患AMD的风险。位于染色体10q26内的LOC387715/HTRA1位点是仅次于补体因子H的第二风险因素。二者主要通过促进玻璃膜疣形成和(或)视网膜色素上皮/Bruch膜改变进而导致AMD形成。有关基因多态性的研究为临床诊疗提供了新的思路和方向。然而,目前对于AMD基因多态性的认识仅停留在基础研究阶段,其功能和作用机制等尚不明确,需进一步深入研究。Age-related macular degeneration （ AMD ）is characterized by tardive and progressive. It is marked by some kinds of noninfective injury around macular area and is a major cause of visual disability for people older than 50. Recent researches indicate that the genetic factors play important roles in AMD, and the inherent immune sys tem may affect the pathological process of AMD. Complement factor H can increase the risk of white people suffering from AMD, while the second risk factor is LOC387715/ HTRA1 located within the chromosome 10q26 that is just secondary to complement factor H. All these lead to the formation of AMD mainly through promoting changes of retinal pigment eoithelium/Bruch membrane and/or the formation of drusen. The researches on gene polymorphisms provide new strategies for treatment. However, the current understanding on gene polymorptusms of AMD stays at foundmental research ,the function and mechanisms are not clear and further studies are needed.

关 键 词：年龄相关性黄斑变性 基因多态性 单核苷酸多态性 

分 类 号：R777.2[医药卫生—眼科]