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：（申请摘要）该提案旨在开发 索尔兹伯里眼科评估 (SEE) 项目作为人口实验室 年龄相关性白内障（导致失明的主要原因）的遗传学研究 在世界上。 SEE 人群，目前有 1964 名年龄 72 岁的受试者 及以上，已经在发病率和 晶状体混浊的进展以及已知的环境和个人风险因素 对于白内障。 目前的项目将继续已经开始的工作 识别并检查居住在 100 人以内的 SEE 参与者的所有兄弟姐妹 马里兰州索尔兹伯里数英里内，估计有超过 1700 人。 镜片 兄弟姐妹的状况将使用 Wilmer 进行照片表型分析 将使用白内障分级系统和兄弟姐妹对设计，治疗 各种类型的白内障作为连续的结果，进行全基因组研究 使用适合复杂表型的多点作图方法进行扫描。 当前的提案要求提供三年的资金来完成上述目标 目标。根据 RFA 的要求，额外的长期目标已经 为今后在这一人群中开展工作而建立：后续照片将 获得兄弟姐妹的信息，以便确定白内障发病率和 进展率以及全基因组扫描中潜在感兴趣的位点 将使用单核苷酸多态性或其他方法进行更详细的探索 类似的技术。