Age-Related Macular Degeneration: A Genetic Epidemiology

年龄相关性黄斑变性：遗传流行病学

• 批准号: 6826970
• 负责人: MARY FRANCES COTCH
• 金额: --
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6826970
• 关键词: Mennonite; biotechnology; clinical research; digital imaging; eye disorder diagnosis; eye fundus photography; genetic markers; genetic susceptibility; human middle age (35-64); human population genetics; human subject; linkage mapping; macular degeneration; patient oriented research; questionnaires; statistics /biometry; stereophotography

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.

视网膜相关性黄斑变性（AMD）是美国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以及潜在的环境影响。在这项合作研究中，我们建议检查1000名成员，年龄50岁及以上，旧秩序阿米什社区在兰开斯特和富兰克林县在宾夕法尼亚州。我们计划详细的AMD的流行病学在这个人口隔离，试图阐明遗传因素，可能会赋予易感性和易感性，一些阿米什人和他们的家庭发展为AMD。同意入组并提供知情同意书的所有研究受试者将接受完整的散瞳眼部检查，在此期间将采集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、阳光和吸烟相关的个人暴露情况。AMD将由威斯康星州大学眼底摄影阅读中心根据视网膜相关眼病研究的AMD分类方案通过对数字眼底照片的独立阅读来确定。一旦足够数量的个体被检查，遗传分析将开始进行。我们计划采用标准的统计遗传学方法，以确定我们是否可以确定任何候选区域或候选基因易感阿米什人发展视网膜病变的AMD指示。 在本财政年度，我们制定了调查问卷，完善了研究方案，并招募了研究参与者。这项研究正在进行中。