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: 6491952
• 负责人: Robert C. Elston
• 金额: $ 29.46万
• 依托单位: CASE WESTERN RESERVE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2001
• 资助国家: 美国
• 起止时间: 2001-09-01 至 2002-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6491952
• 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).

比弗坝眼科研究旨在确定患病率 白内障、年龄相关性黄斑病变、青光眼和视力的严重程度 损伤 在五千一百八十九名年龄介乎四十三至八十四岁， 参与研究的人组成了两个或更多的兄弟姐妹。 计算了许多性状的同胞相关性， 对这些人进行眼科检查，然后 这些性状与兄弟姐妹有显著的相关性， 进行了分离分析。 常染色体适应症 客观定量评分存在隐性遗传 涉及三种特定的病症：（1）年龄相关的黄斑病变， 以15级量表测量，并根据年龄进行二次调整 退化;（2）核硬化，以11级量表测量， 同样调整年龄;和（3）皮质性白内障，测量为 涉及皮质混浊的面积百分比，针对两个年龄进行校正 和性别 一项联系研究正在进行中，以确定 存在一个或多个导致视力障碍的主要基因 并确定相关的基因组位置。