Stroke Genetics in a Multi-Ethnic Community

描述（由申请人提供）：缺血性卒中是美国第三大死亡原因，也是成人残疾的头号原因。中风的环境危险因素已经确定，但中风的遗传学尚未得到很好的研究。国家神经疾病和中风研究所（NINDS）已将中风遗传学确定为研究重点。在中风流行病学方面，很少有训练有素的专家，而专注于遗传学的专家更少。拟议的研究工作对NINDS概述的中风遗传学的目标，通过执行关键的调查，导致未来的人口中风遗传学研究在双种族社区的Nueces县，得克萨斯州，以及开发一个人谁将致力于她的职业生涯中风及其决定因素，包括遗传学的研究。 该候选人是一名经过博士培训的流行病学家，目前在中风领域工作，并致力于中风研究。该申请提出了一个全面的5年计划，将候选人培养成独立的中风研究人员，包括教学培训，例如参加中风诊所和急诊室以观察中风患者的治疗，遗传学的正式课程，以及DNA提取和遗传标记筛选方面的实践培训。候选人的长期目标是通过结合流行病学，生物统计学和遗传学的技能，成为中风遗传学研究的领导者。密歇根大学有一个强大的中风计划和人类遗传学系，以确保候选人在这些努力的成功。 在科珀斯克里斯蒂（BASIC）脑发作监测项目，一个基于人群的中风监测研究，将是拟议的研究的数据来源。研究参与者的访谈数据和血液样本将用于完成以下任务：目的1 -描述德克萨斯州Nueces县家庭的规模和结构，并确定卒中病例的无卒中配偶和后代作为对照的可用性;目的2 -评估德克萨斯州Nueces县人群中卒中的遗传贡献;目的3 -为了验证中风病例的准确性，以报告兄弟姐妹之间的中风;目的4 -为了评估祖先信息标记的等位基因频率，确定在德克萨斯州Nueces县的遗传混合模式，并建立血液采集的可行性。 该研究的目的是为全面研究中风的遗传成分铺平道路，包括探索种族遗传混合物和中风风险之间的关系，并测试有关中风易感基因的特定假设。

DESCRIPTION (provided by applicant): Ischemic stroke is the third leading cause of death in the US, and the number one cause of adult disability. Environmental risk factors for stroke have been identified, but the genetics of stroke have not been well studied. The National Institute of Neurologic Disorders and Stroke (NINDS) has identified stroke genetics as a research priority. There are few trained experts in stroke epidemiology and fewer who focus on genetics. The proposed research works towards the goals outlined by NINDS for stroke genetics by performing critical investigations leading to future population stroke genetics research in the bi-ethnic community of Nueces County, Texas, as well as developing an individual who will devote her career to the study of stroke and its determinants, including genetics. The candidate is a PhD trained epidemiologist currently working in the field of stroke and is dedicated to a career in stroke research. This application proposes a comprehensive 5-year plan to develop the candidate into an independent stroke researcher, including didactic training, such as attendance in stroke clinics and the emergency department to observe stroke patient treatment, formal coursework in genetics, and hands on training in DNA extraction and screening of genetic markers. The candidate's long-term objective is to become a leader in stroke genetics research by combining skills in epidemiology, biostatistics, and genetics. The University of Michigan has a strong Stroke Program and Department of Human Genetics to assure the candidate's success in these endeavors. The Brain Attack Surveillance in Corpus Christi (BASIC) Project, a population-based stroke surveillance study, will be the data source for the proposed research. Interview data and blood samples from study participants will be used to accomplish the following: Aim 1 - To describe the size and structure of families in Nueces County, Texas, and determine the availability of stroke-free spouses and offspring of stroke cases to serve as controls; Aim 2 - To assess the genetic contribution of stroke in the population of Nueces County, Texas; Aim 3 - To verify the accuracy of stroke cases to report stroke among siblings; Aim 4 - To assess allele frequencies for ancestry informative markers, determine patterns of genetic admixture in Nueces County, Texas, and establish the feasibility of blood collection. The Aims of the proposed research pave the way for comprehensive research to investigate the genetic components of stroke including an exploration of the relationship between ethnic genetic admixture and stroke risk and testing specific hypotheses about stroke susceptibility genes.