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Age-Related Macular Degeneration: A Genetic Epidemiology Study in the Amish

年龄相关性黄斑变性：阿米什人的遗传流行病学研究

基本信息

批准号：
8556829
负责人：
Mary Frances Cotch
金额：
$ 1.22万
依托单位：
NATIONAL EYE INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
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/8556829
关键词：
Accounting Address Affect Age Age related macular degeneration Aged, 80 and over Amish Area Classification Scheme Cohort Studies Communities Complex County Data Disease Enrollment Environmental Exposure Environmental Risk Factor Epidemiology Eye Eye diseases Family Frequencies Funding Fundus Fundus photography Genetic Genetic Predisposition to Disease Hyperopia Image Individual Informed Consent Life Style Myopia Occupations Ophthalmic examination and evaluation Optic Disk Paper Participant Pennsylvania Population Population Group Predisposition Questionnaires Reading Recruitment Activity Refractive Errors Resources Sampling Sampling Studies Schools Siblings Smoking Statistical Data Interpretation Statistical Methods Structure Sunlight Technology United States Universities Vision Visual impairment Wisconsin Work age related digital eighth grade epidemiology study genetic epidemiology macula member novel

项目摘要

Although the focus of this study is on age-related macular degeneration, due to resource constraints, it took many years to recruit a sample of sufficient size to be able to address the original study aims. In the interim, analysis of refractive data, collected as part of the eye examination and within the parameters of the informed consent, were analyzed. Refractive error is a common ocular condition in the US and without correction, the vision in an affected eye is impaired. The most prevalent refractive error, myopia or nearsightedness, is increasing in frequency in many parts of the world. Although a genetic predisposition is believed to predispose individuals to develop myopia, other environmental factors such as near work activities are also thought to influence susceptibility. The Old Order Amish have an unique, largely agrarian lifestyle, avoid modern technology, and discontinue all formal schooling after the eighth grade. Because their environmental exposures are internally homogenous and do not entail much near work activity, we decided to investigate the distribution of refractive error, specifically myopia and hyperopia (farsightedness) within Amish sibships who are participants in this cohort study. We found that rates of myopia and hyperopia in the Old Order Amish siblings are lower than those observed in other population groups of similar age structure. Myopia and hyperopia were also observed to aggregate within sibships. Genetic factors are estimated to account for 70% of the variability in refractive error in these Amish sibships. The statistical analysis of data from families is complex because families are of different sizes and vary in composition. A subset of data from this Amish study served to demonstrate the application of a novel statistical method useful for analysis of family data. For more information, see http://biostats.bepress.com/upennbiostat/papers/art33. Recruitment for this study was completed in October 2011. The study has since ended. Study samples and data are being held in storage pending the availability of funds for their analysis.

虽然这项研究的重点是年龄相关性黄斑变性，但由于资源限制，需要多年时间才能招募足够规模的样本，以实现最初的研究目标。在此期间，分析了作为眼部检查的一部分并在知情同意书参数范围内收集的屈光数据。屈光不正是美国常见的眼部疾病，如果不进行矫正，受影响眼睛的视力就会受损。最普遍的屈光不正，近视或近视，在世界许多地方的频率正在增加。虽然遗传易感性被认为使个体易患近视，但其他环境因素如近距离工作活动也被认为会影响易感性。旧秩序阿米什人有一种独特的，主要是农业的生活方式，避免现代技术，并在八年级后停止所有正规教育。因为他们的环境暴露是内部同质的，不需要太多的近距离工作活动，我们决定调查屈光不正的分布，特别是近视和远视（远视）在阿米什同胞谁是参与这项队列研究。我们发现，近视和远视的比率在旧秩序阿米什兄弟姐妹低于观察到的其他人口群体的类似年龄结构。近视和远视也被观察到聚集在同胞。据估计，遗传因素占70%的变异，屈光不正在这些阿米什同胞。对家庭数据的统计分析是复杂的，因为家庭的大小和组成各不相同。从这个阿米什人的研究数据的一个子集，以证明一种新的统计方法，用于分析家庭数据的应用。如需详细信息，请参阅http://biostats.bepress.com/upennbiostat/papers/art33。本研究的招募于2011年10月完成。这项研究已经结束。研究样本和数据目前正在储存中，等待获得用于分析的资金。