GENETICS OF AGED RELATED CATARACTS IN SALISBURY MARYLAND

马里兰州索尔兹伯里老年相关白内障的遗传学

• 批准号: 6215441
• 负责人: NATHAN G CONGDON
• 金额: $ 38.02万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-09-30 至 2003-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6215441
• 关键词: Medicare /Medicaid; United States; aging; alcoholism /alcohol abuse; antioxidants; cataract; clinical research; diabetes mellitus; disease /disorder onset; family genetics; gender difference; gene environment interaction; genetic polymorphism; genetic susceptibility; human old age (65+); human subject; hypertension; linkage mapping; longitudinal human study; smoking; tobacco abuse; ultraviolet radiation

DESCRIPTION: (Abstract from application) This proposal seeks to develop the Salisbury Eye Evaluation (SEE) Project as a population laboratory for the study of the genetics of age-related cataract, the leading cause of blindness in the world. The SEE population, now numbering 1964 subjects aged 72 years and above, has already been well characterized with regards to incidence and progression of lens opacity and known environmental and personal risk factors for cataract. The current project will continue work which has already begun to identify and examine all siblings of SEE participants living within 100 miles of Salisbury MD, estimated at greater than 1700 individuals. Lens status of the siblings will be phenotyped photographically using the Wilmer Cataract Grading System, and a sibling-pair design will be used, treating the various types of cataract as continuous outcomes, to carry out a genome-wide scan using multi-point mapping methods suitable for complex phenotypes. The current proposal requests three years of funding to accomplish the above objectives. As requested in the RFA, additional long-term goals have been established for future work in this population: follow-up photographs will be obtained on the siblings to allow determination of cataract incidence and progression rates, and loci of potential interest from the genome-wide scan will be explored in more detail using single nucleotide polymorphisms or other similar techniques.

描述：（应用程序摘要）该提案旨在开发 索尔兹伯里眼睛评估（请参阅）项目作为人口实验室 研究与年龄相关性白内障的遗传学，这是失明的主要原因 在世界上。 看到的人口，现在编号为1964年的72岁的受试者 以上，已经在发病率和 镜头不透明度以及已知的环境和个人风险因素的发展 为白内障。 当前项目将继续工作已经开始 识别和检查所有居住在100之内的参与者的兄弟姐妹 索尔兹伯里（Salisbury）的数英里医学博士，估计有1700多人。 镜片 兄弟姐妹的状态将使用威尔默在摄影上表现出来 白内障分级系统和兄弟姐妹设计将使用，处理 各种类型的白内障作为连续结果，以进行全基因组 使用适合复杂表型的多点映射方法扫描。 当前的提案要求三年的资金完成上述 目标。根据RFA的要求，额外的长期目标是 在此人群中为将来的工作建立：后续照片将是 在兄弟姐妹上获得，以确定白内障的发生率和 进展率和来自基因组扫描的潜在兴趣的基因座 将使用单核苷酸多态性或其他 类似的技术。