Linkage Studies of Quantitative Ocular Traits

数量性眼部特征的关联研究

• 批准号: 7059887
• 负责人: BARBARA EDEN KLEIN
• 金额: $ 17.76万
• 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 2008-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7059887
• 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）：本提案描述了一项眼部数量性状的遗传流行病学研究。每个人都会出现的这些眼部特征与随后的疾病发展有关，在某些情况下可能导致视力障碍。我们建议研究的特征包括眼内压和视盘和视杯直径，这可能与青光眼的发展有关;核硬化，一个持续一生的过程，在某些人中，导致明显的核性白内障;当屈光在正视眼的任一侧大于约1屈光度时，通常需要使用眼镜或透镜矫正以获得最佳视力，并且可能限制职业机会和影响生活质量;以及视网膜血管直径，其与血压、冠心病和中风相关。这些数量性状的价值往往聚集在家庭和统计分析表明，有可能是这些性状的遗传决定因素。比弗坝眼科研究（n=4926）是一项基于人群的年龄相关性眼病研究。所有程序、问卷调查、透镜和视网膜的摄影以及这些照片的分级程序都是根据编纂的方案进行的。1988年至1990年，共有602个家庭参加了基线检查。在这些家庭中有2291人获得了血液标本，并在-80 ℃下冷冻。遗传连锁分析，使用全基因组扫描血液从这些人提出了确定遗传相关的数量眼部性状。全基因组扫描已经在遗传疾病研究中心完成。需要提供支助，以调和差异，检查错误，并进行基本统计分析和联系分析。 本研究利用了未入选比弗坝眼科研究的所有研究受试者的表型的完整信息，这些受试者的疾病状态、大量家庭成员和支持遗传原因的强有力的统计遗传证据。研究这些特征有望确定疾病发展之前存在的风险因素的遗传相关性。基于本研究结果的预防策略可以旨在阻止或减少重大疾病发展的可能性。计划随后对基因组中感兴趣的区域进行精细绘图。