Linkage Studies of Quantitative Ocular Traits

数量性眼部特征的关联研究

• 批准号: 6916652
• 负责人: BARBARA EDEN KLEIN
• 金额: $ 24.65万
• 依托单位: UNIVERSITY OF WISCONSIN-MADISON
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-05-01 至 2007-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6916652
• 关键词: clinical research; eye disorder; eye refraction disorder; family genetics; gene environment interaction; genetic susceptibility; glaucoma; human data; human subject; intraocular pressure; linkage mapping; longitudinal human study; optic disk; quantitative trait loci

DESCRIPTION (provided by applicant): This proposal describes a genetic epidemiologic study of quantitative ocular traits. These ocular traits, which occur in everyone, are associated with the subsequent development of diseases which in some cases may lead to visual impairment. The traits we propose to study include intraocular pressure and optic disc and cup diameters, which may be related to the development of glaucoma; nuclear sclerosis, a process that continues throughout life and in some people, results in an overt nuclear cataract; refraction which, when greater than about one diopter on either side of emmetropia, often requires the use of spectacles or lens correction for best vision, and may limit professional opportunities and influence quality of life; and retinal vessel diameters, which has been associated with blood pressure; coronary heart disease, and stroke. Values of these quantitative traits tend to aggregate in families and statistical analyses suggest that there are likely to be genetic determinants of these traits. The Beaver Dam Eye Study (n=4926), is a population-based study of age-related eye disease. All procedures, questionnaires, photography of the lens and retina and grading procedures of those photographs were done according to codified protocols. There were 602 families that participated in the baseline examination in 1988-1990. There were 2291 persons in these families from whom blood specimens were obtained and frozen at -80 degrees C. Genetic linkage analyses using a genome-wide scan on blood from these persons is proposed to determine genetic correlates of quantitative ocular traits. Genome-wide scans have been completed at the Center for Inherited Disease Research. Support is needed to reconcile discrepancies, check errors, and perform basic statistical analyses and linkage analyses. This study takes advantage of the availability of thorough information on phenotypes of all study subjects who were not selected for inclusion in the Beaver Dam Eye Study by disease status, the large number of family members, and the strong statistical genetic evidence in favor of genetic causes. Studying these traits holds promise of determining genetic correlates of risk factors which are present prior to the development of disease. Preventive strategies based on results of this study could be aimed at deterring or diminishing the probability of development of significant diseases. Subsequent follow-up with fine mapping of areas of interest in the genome is planned.

描述（由申请人提供）：该提案描述了定量眼性状的遗传流行病学研究。这些眼部特征（每个人都发生在每个人中）与随后的疾病发展有关，在某些情况下可能导致视觉障碍。我们建议研究的特征包括眼内压，视盘和杯子直径，这可能与青光眼的发展有关。核硬化症是在整个生命和某些人中持续的过程，导致明显的核白内障。折射，当艾米特罗皮亚两侧大约一个屈光度的折射时，通常需要使用眼镜或镜头校正来获得最佳视野，并且可能会限制专业机会并影响生活质量；和视网膜血管直径，与血压有关；冠心病和中风。这些定量性状的值倾向于在家族中汇总，统计分析表明可能存在这些特征的遗传决定因素。 Beaver Dam Eye研究（N = 4926）是一项基于人群的年龄相关眼病的研究。所有程序，问卷，镜头和视网膜的摄影以及这些照片的分级程序都是根据编纂协议进行的。 1988 - 1990年，有602个家庭参加了基线检查。在这些家族中，有2291人从中获得了血液标本，并在-80摄氏度中冷冻C.使用来自这些人的血液扫描的遗传连锁分析，以确定定量眼性状性状的遗传相关性。全基因组扫描已在遗传性疾病研究中心完成。需要支持来调和差异，检查错误并执行基本的统计分析和链接分析。 这项研究利用了有关所有研究受试者的表型的详尽信息，他们未被选为疾病状况，大量家庭成员和强有力​​的统计遗传证据，以支持遗传原因。研究这些特征有望确定疾病发展之前存在的危险因素的遗传相关性。基于这项研究结果的预防策略可以旨在阻止或减少明显疾病发展的可能性。随后的随访，并计划对基因组感兴趣的领域进行精细映射。