Age-Related Macular Degeneration: A Genetic Epidemiology

在美国，年龄相关性黄斑变性（AMD）是导致视力损害的主要原因。现有证据表明，AMD是一种复杂的疾病，具有重要的遗传成分和潜在的环境影响。在这项合作研究中，我们建议对宾夕法尼亚州兰开斯特和富兰克林县地区的旧秩序阿米什社区的1000名50岁及以上的成员进行调查。我们计划详细研究该人群中AMD的流行病学，试图阐明可能导致某些阿米什人及其家庭易感性和易患AMD的遗传因素。所有同意报名并提供知情同意书的研究参与者将接受一个完整的扩张性眼睛检查，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调查问卷，询问与职业、阳光和吸烟有关的个人暴露情况。AMD将根据年龄相关眼病研究的AMD分类方案，由威斯康星大学眼底摄影阅读中心独立阅读数字眼底照片来确定。一旦检测到足够数量的个体，基因分析将开始进行。我们计划采用标准的统计遗传学方法来确定我们是否可以确定任何候选区域或候选基因，使阿米什人易患黄斑变性视网膜病变。

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. During this fiscal year we developed the questionnaire, refined the study protocol, and recruited study participants. The study is on-going.