Gene-environment-wide interaction studies of ocular refraction

眼屈光的基因-环境相互作用研究

• 批准号: 8598475
• 负责人: Robert J. Wojciechowski
• 金额: $ 17.01万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8598475
• 关键词: Affect; Age; Behavioral; Biological; Biology; Clinical; Code; Complement; Complex; Custom; Data; Data Set; Development; Economics; Education; Environment; Environmental Risk Factor; Epidemic; Epidemiologic Studies; Etiology; Exposure to; Eye; Eye diseases; Far East; Foundations; Genes; Genetic; Genetic Polymorphism; Genomics; Germany; Goals; Grant; Human; Hyperopia; Individual; Inherited; Intervention; K-Series Research Career Programs; Knowledge; Literature; Logistic Regressions; Measures; Mediating; Mentors; Methods; Myopia; Ocular Refraction; Optics; Optometry; Pathway interactions; Play; Policy Maker; Population; Prevalence; Proxy; Public Health; Reading; Refractive Errors; Research; Research Design; Role; Scientist; Singapore; Teenagers; Testing; Training; Training Programs; Translating; United States; Visual; Visual impairment; Western Europe; base; career; cohort; design; gene environment interaction; genome wide association study; genome-wide; human population study; network models; productivity loss; public health relevance; skills; trait; urban area; young adult

DESCRIPTION (provided by applicant): Refractive errors (myopia and hyperopia) are the most widespread human eye disorders. By the year 2020, one third of the world's population-over 2.5 billion people-will be affected by myopia alone. The global economic productivity loss from uncorrected refractive errors has been estimated to be $268 billion. Hence, refractive errors are a significant Public Health problem, especially in regions of East Asia where myopia has reached ¿epidemic¿ proportions. Refractive errors are complex traits, in which both inherited genetic and environmental/behavioral factors are thought to play significant roles. The objective of this project is to study the effects of gene-environment interactions on ocular refraction within the context of whole-genome association studies. The proposed research will make use of 6 large datasets from genomic studies conducted in the United States, Germany, and Singapore. Our specific aims are to: 1) discover of genetic polymorphisms which interact with environmental factors in gene-environment-wide interaction studies of refractive error; and 2) identify biological pathways or gene-sets through which environmental factors mediate refractive error development in humans. The ultimate goals of the research are to better understand the complex biology of ocular refractive development, and identify specific genes which interact with environmental factors (as measured by proxies of exposure to high visual demand, such as education and reading) in refractive error. The proposed research is part of a K08 Mentored Clinical Scientist Research Career Development Award. Training in the grant period will focus on developing skills necessary in the design, management, analysis and interpretation of large-scale gene-environment-wide studies. Dr. Wojciechowski's long-term career will be devoted to translating the vast data provided by large genomic studies into clinically useful, comprehensible, and practical information. This information will ultimately benefit scientists, clinicians, Public Health practitioners, policy makers and, most importantly, the public at large.

描述（由申请人提供）：屈光不正（近视和远视）是最普遍的人类眼部疾病。到2020年，世界人口的三分之一，即超过25亿人将受到近视的影响。未经矫正的屈光不正造成的全球经济生产力损失估计为2680亿美元。因此，屈光不正是一个重大的公共卫生问题，特别是在近视已达到“流行”程度的东亚地区。屈光不正是一种复杂的特征，遗传和环境/行为因素都被认为在其中起着重要作用。本项目的目的是在全基因组关联研究的背景下研究基因-环境相互作用对眼部屈光的影响。这项拟议的研究将利用来自美国、德国和新加坡基因组研究的6个大型数据集。我们的具体目标是：1)在屈光不正的基因-环境相互作用研究中发现与环境因素相互作用的遗传多态性；2)确定环境因素介导人类屈光不正发展的生物学途径或基因集。这项研究的最终目标是更好地理解眼屈光发育的复杂生物学，并确定与环境因素相互作用的特定基因（通过暴露于高视力要求的环境中，如教育和阅读）。拟议的研究是K08指导临床科学家研究职业发展奖的一部分。赠款期间的培训将集中于发展设计、管理、分析和解释大规模基因-环境研究所需的技能。Wojciechowski博士的长期职业生涯将致力于将大型基因组研究提供的大量数据转化为临床有用的、可理解的和实用的信息。这些信息最终将使科学家、临床医生、公共卫生从业人员、政策制定者以及最重要的是广大公众受益。