Age-Related Macular Degeneration: A Genetic Epidemiology

老年性黄斑变性(AMD)是美国视力受损的主要原因。现有证据表明，AMD是一种复杂的疾病，具有显著的遗传成分和潜在的环境影响。在这项合作研究中，我们建议调查宾夕法尼亚州兰开斯特和富兰克林地区旧秩序阿米什社区的1000名成员，年龄在50岁及以上。我们计划详细介绍AMD在这一分离的人群中的流行病学，试图阐明可能导致易感性的遗传因素，并使一些阿米什人及其家庭容易患上AMD。所有同意登记并提供知情同意的研究参与者将接受全面的、扩大的眼睛检查，在此期间将获得黄斑和视盘区域的数字立体图像。研究参与者还将被要求完成一份简短的问卷，询问与职业、阳光和吸烟有关的个人暴露情况。根据年龄相关眼病研究的AMD分类方案，威斯康星大学眼底摄影阅读中心将通过独立阅读数字眼底照片来确定AMD。一旦对足够数量的个体进行了检查，基因分析就会开始。我们计划使用标准的统计遗传学方法来确定我们是否可以确定任何使阿米什人易患AMD视网膜病变的候选区域或候选基因。

Age-related macular degeneration (AMD) is a leading cause of visual impairment in the United States. Available evidence suggests that AMD is a complex disorder with a significant genetic component as well as potential environmental influences. In this collaborative study we propose to examine 1000 members, ages 50 and older, of the Old Order Amish community in the Lancaster and Franklin counties area in Pennsylvania. We plan to detail the epidemiology of AMD in this population isolate in attempt to elucidate genetic factors which may confer susceptibility and predispose some Amish individuals and their families to develop AMD. All study participants agreeing to enroll and providing informed consent will undergo a complete, dilated eye examination during which digital stereo images of the macula and optic disc regions will be acquired. Study participants will also be asked to complete a brief questionnaire inquiring about personal exposures related to occupation, sunlight, and smoking. AMD will be determined by an independent reading of the digital fundus photographs by the University of Wisconsin Fundus Photography Reading Center according to the Age-Related Eye Disease Study's AMD classification scheme. Once sufficient numbers of individuals are examined, genetic analyses will get underway. We plan to employ standard statistical genetics methods to determine whether we can identify any candidate regions or candidate genes predisposing Amish individuals to develop retinal lesions indicative of AMD.