GENETIC ANALYSIS: OPHTHALMOLOGIC FAMILY DATA: AGING POPULATION: MACULOPATHY

遗传分析：眼科家族数据：老龄化人口：黄斑病变

• 批准号: 6206093
• 负责人: Robert C. Elston
• 金额: $ 0.75万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-09-01 至 2000-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6206093
• 关键词: aging; biomedical resource; epidemiology; eye; genetics

The Beaver Dam Eye Study was designed to determine the prevalence and severity of cataract, age-related maculopathy, glaucoma and visual impairment. About one quarter of the 5,189 persons aged 43 to 84 who participated in the study formed sibships of size two or larger. Sibling correlations were calculated for numerous traits for which these persons were scored on ophthalmologic examination, and then those traits for which there were significant sibling correlations were subjected to segregation analysis. Indications of autosomal recessive inheritance were found for objective quantitative scores related to three particular conditions: (1) age-related maculopathy, measured on a 15-step scale and adjusted for age by quadratic regression; (2) nuclear sclerosis, measured on an 11-step scale, similarly adjusted for age; and (3) cortical cataract, measured as the percent area involved with cortical opacities, adjusted for both age and sex. A linkage study is in progress with a view to confirming the existence of one or more of these major genes for visual impairment and determining the relevant genomic location(s).

海狸坝眼部研究旨在确定患病率 白内障、年龄相关性黄斑病、青光眼和视力的严重程度 损害。 5,189 名年龄在 43 岁至 84 岁之间的人中，约有四分之一 参与该研究的兄弟会规模为二或更大。 计算了许多特征的兄弟姐妹相关性 对这些人进行眼科检查评分，然后 那些存在显着兄弟姐妹相关性的特征 并进行了分离分析。 常染色体的适应症 隐性遗传被发现用于客观定量评分 与三种特殊情况有关：（1）年龄相关性黄斑病， 采用 15 级量表进行测量，并根据年龄进行二次调整 回归； (2) 核硬化，按 11 级进行测量， 同样根据年龄进行调整； (3) 皮质白内障，测量为 涉及皮质混浊的面积百分比，根据年龄进行调整 和性。 一项关联研究正在进行中，以期确认 存在一种或多种导致视力障碍的主要基因 并确定相关的基因组位置。