Clinical and Genetic Analysis of Retinopathy of Prematurity

这个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）的发生率，并分析其关系。虽然 生物医学研究数据正在以惊人的速度生成， 已经完成了整合不同的科学发现， 从基因组学到影像学再到临床医学。我们的总体假设是， 因子参与ROP发病机制的启动和调节， 是ROP的临床、影像学和遗传学发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检验：（1）招募， 表型，并收集遗传物质，从队列超过1460早产儿在- 来自7家研究中心的ROP风险。数据将存储在基于Web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充分确定，和系列广泛- 将捕获角度图像。将分离DNA并制备用于基因分型。（二） 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的临床和影像学表现之间的关系。整合的模式 定量图像特征、临床特征和环境危险因素对 将估计ROP敏感性。基因分型、基因分析、招募 根据需要增加受试者，并对临床和遗传特征进行建模 在这个项目的竞争性更新。最终，这些研究应该会改善 了解ROP和相关眼部疾病中的新血管形成，以及正常 婴儿的血管发育。此外，这项工作应展示一个原型， 用于结合基因型和表型数据的健康信息管理。 该项目将由一个多学科的合作研究小组进行 具有临床眼科学、生物医学信息学、遗传分析和 统计遗传学

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.