Clinical and Genetic Analysis of Retinopathy of Prematurity

早产儿视网膜病变的临床和遗传学分析

• 批准号: 8144767
• 负责人: MICHAEL F. CHIANG
• 金额: $ 68.86万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2010
• 资助国家: 美国
• 起止时间: 2010-09-30 至 2015-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8144767
• 关键词: Address; Algorithms; Biomedical Research; Blindness; Blood Vessels; Childhood; Clinical; Clinical Data; Clinical Medicine; Computers; DNA; Data; Development; Disease; Disease susceptibility; Electronic Health Record; Environmental Exposure; Environmental Risk Factor; Future; Genetic; Genetic Markers; Genetic Materials; Genomics; Genotype; Goals; Health; Healthcare; Image; Image Analysis; Imaging Device; Infant; Informatics; Information Management; Judgment; Knowledge; Longitudinal Studies; Measurement; Methods; Modeling; Molecular Genetics; Online Systems; Ophthalmology; Outcome; Oxygen; Pathogenesis; Phenotype; Predisposition; Premature Birth; Premature Infant; Premature Infant Diseases; Recording of previous events; Recruitment Activity; Research; Research Personnel; Research Project Grants; Retinal; Retinopathy of Prematurity; Risk; Risk Factors; System; Testing; United States; Visual; Work; angiogenesis; base; bioimaging; biomedical informatics; cohort; data management; disorder risk; genetic analysis; high risk; improved; neovascular; neovascularization; prototype; trait

The long-term goal of this project is to identify clinical and genetic features of retinopathy of prematurity (ROP) development, and to analyze their relationships. Although biomedical research data are being generated at an enormous pace, much less work has been done to integrate disparate scientific findings across the spectrum from genomics to imaging to clinical medicine. Our overall hypotheses are that genetic factors are involved in the initiation and modulation of ROP pathogenesis, and that there are etiological relationships among clinical, imaging, and genetic findings in ROP. These hypotheses will be tested using two sequential Specific Aims: (1) Recruit, phenotype, and collect genetic material from a cohort of over 1460 premature infants at- risk for ROP from 7 study centers. Data will be stored in a web-based data management system that will be developed for this project. Demographic and clinical features from three serial ophthalmoscopic examinations will be ascertained fully, and serial wide- angle images will be captured. DNA will be isolated and prepared for genotyping. (2) Quantify retinal vascular features using computer-based image analysis, and analyze relationships between clinical and image findings in ROP. Models for integrating the effects of quantitative image traits, clinical features, and environmental risk factors on ROP susceptibility will be estimated. Genotyping, genetic analysis, recruitment of additional subjects as needed, and modeling of clinical and genetic traits will be pursued during competitive renewal of this project. Ultimately, these studies should improve understanding of neovascularization in ROP and related ocular diseases, and of normal vascular development in infants. In addition, this work should demonstrate a prototype for health information management which combines genotypic and phenotypic data. This project will be performed by a multi-disciplinary team of collaborative investigators with expertise in clinical ophthalmology, biomedical informatics, genetic analysis, and statistical genetics.

该项目的长期目标是确定视网膜病变的临床和遗传特征 早产儿（ROP）发展的影响，并分析它们之间的关系。虽然 生物医学研究数据正在以惊人的速度生成，更不用说工作了 已经完成了整合不同的科学发现 基因组学到影像学到临床医学。我们的总体假设是遗传 多种因素参与 ROP 发病机制的启动和调节，并且 ROP 的临床、影像学和遗传学表现之间的病因学关系。 这些假设将使用两个连续的具体目标进行测试：（1）招募， 表型，并从超过 1460 名早产儿的队列中收集遗传物质 来自 7 个研究中心的 ROP 风险。数据将存储在基于网络的数据管理中 将为该项目开发的系统。人口统计学和临床​​特征 三个系列检眼镜检查将得到充分确定，并且系列广泛 将捕获角度图像。 DNA 将被分离并准备用于基因分型。 (2) 使用基于计算机的图像分析量化视网膜血管特征，并分析 ROP 临床和影像结果之间的关系。集成模型 定量图像特征、临床特征和环境风险因素的影响 将估计 ROP 敏感性。基因分型、遗传分析、招募 根据需要增加科目，并将进行临床和遗传特征的建模 在该项目的竞争性更新期间。最终，这些研究应该改进 了解 ROP 和相关眼部疾病中的新生血管形成以及正常情况 婴儿血管发育。此外，这项工作应该展示一个原型 用于结合基因型和表型数据的健康信息管理。 该项目将由多学科合作研究人员团队执行 拥有临床眼科、生物医学信息学、遗传分析等方面的专业知识 统计遗传学。