Familial Aggregation of Stroke

描述（由申请人提供）：本提案是为一个辅导 以患者为导向的研究职业发展奖。我的长期目标是学习 中风的遗传流行病学作为一个独立的研究者。随着人类 基因组计划接近完成， 可用于连锁分析的多态性方法30万， 需要科学家，可以弥合分子之间的信息差距， 遗传学和临床医学变得越来越重要。中风是一 特别复杂的疾病，具有不同的遗传和环境因素， 对中风和中风亚型的影响， 的特性。中风临床领域的专业知识是先决条件，但 本身，不足以适当地寻找各种遗传根源， 中风亚型 在未来，我计划独立设计，管理和分析研究， 探索中风的遗传和环境原因的复杂关系 和中风亚型。为了实现这个目标，我将获得理学硕士学位 在分子遗传学以及进行广泛的培训，在统计 遗传学和计算机科学，这是一个组成部分，目前 统计学和遗传学。该研究项目旨在成为一种工具， 了解遗传流行病学的复杂性，数据采集和 分析结果，以及实验中出现的困难， 基于群体的遗传学研究。这些工具对于设计是必不可少的， 遗传流行病学研究的管理和分析。此外该 研究项目将提供一个家庭数据库， 来自脑出血家族聚集体的材料，这将是 为今后的学习打下基础。 本研究项目的具体目标是：1）确定 的脑出血（ICH）病例可归因于家族性 在控制了环境危险因素后，中风的聚集性; 2） 确定ICH位置（脑叶与非脑叶）对以下风险的重要性 中风的家族聚集性;和3）确定脑出血的风险比 病例与对照组的一级亲属（按与 先证者确定ICH家族聚集性的组成部分， 独立于环境风险因素的家庭聚集， 中风遗传流行病学分析的基础步骤。

DESCRIPTION (provided by applicant): This proposal is for a Mentored PatientOriented Research Career Development Award. My longterm goal is to study the genetic epidemiology of stroke as an independent investigator. As the human genome project nears completion and the number of single nucleotide polymorphisms that can be used for linkage analysis approaches 300,000, the need for scientists that can bridge the information gap between molecular genetics and clinical medicine becomes increasingly important. Stroke is a particularly complex disease that has varying genetic and environmental influences for both stroke and stroke subtypes that complicates the dissection of the trait. Expertise in the clinical field of stroke is a prerequisite, but by itself, inadequate to properly search for the genetic roots of the various stroke subtypes. In the future, I plan to independently design, manage and analyze studies that explore the complex relationship of genetic and environmental causes of stroke and stroke subtypes. To achieve this goal, I will obtain a masters of Science in Molecular Genetics as well as undertake extensive training in statistical genetics and in the computer science that is an integral part of current statistics and genetics. The research project is designed to be a vehicle for understanding the complexities of genetic epidemiology, data acquisition and analysis of results, and experimental difficulties that arise from populationbased genetic studies. These tools are essential for the design, management and analysis of a genetic epidemiology study. In addition, the research project will provide a database of families as well as genetic material from familial aggregations of intracerebral hemorrhage, which will be the foundation of future studies. The specific aims of the research project are: 1) to determine the proportion of cases of intracerebral hemorrhage (ICH) attributable to the familial aggregation of stroke after controlling for environmental risk factors; 2) to determine the importance of location (lobar vs. nonlobar) of ICH to the risk of familial aggregation of stroke; and 3) to determine the risk ratio for ICH in first degree relatives of cases as compared to controls by relationship to the proband. Determining the component of the familial aggregation of ICH that is independent of the familial aggregation of environmental risk factors is a fundamental step in the analysis of the genetic epidemiology of stroke.