Ethnic/Racial Variation in Intracerebral Hemorrhage (ERICH)

描述（由申请人提供）：脑出血（ICH）发生于脑实质内血管破裂，导致神经系统损伤和经常死亡。大约40-50%患有ICH的患者将死于出血。在幸存者中，大多数是残疾人。因此，ICH是发病率和死亡率最高的卒中亚型。研究发现，非洲裔美国人和西班牙裔美国人的少数民族人群的ICH发病率大约是白人的两倍，平均而言，ICH发病年龄更小。然而，尽管这种不成比例的医疗保健负担，非洲裔美国人中只有不到200例ICH病例，西班牙裔美国人中只有不到100例ICH病例被收集到DNA可用于检测。我们的计划是收集1000例白人ICH病例，1000例黑人ICH病例，1000例西班牙裔ICH病例，以及3000例按人种/种族、年龄（5岁）、性别和地理位置与病例匹配的对照。我们的长期目标是进行一项脑出血的全基因组关联研究，其中包括相当大比例的少数民族ICH。一项全基因组关联研究评估了具有数十万个标记的DNA，以确定与ICH风险较高或较低相关的区域或基因。然而，由于目前可用的数字不足，目前的提案将无法完成这类分析。因此，当前提案的目标是：1）了解黑人和西班牙裔美国人中最重要的ICH风险因素; 2）确定不同人种/种族的脑成像差异; 3）确定不同人种/种族的结局率差异的介导因素;以及4）确定来自不同地区或民族（如墨西哥人、古巴人等）的西班牙裔美国人和非洲裔美国人在基因上是不同的为了实现这些目标，我们有11个招募中心，代表全美30家招募医院，这些医院拥有大量的非洲裔美国人和西班牙裔美国人。还将招募来自相同地区的白色ICH病例，以解释风险因素的地区差异以及风险因素、结局和影像学差异的比较组。将与乔治敦大学合作，在马萨诸塞州总医院建立一个集中的神经成像中心，统一阅读和分析胶片。将在迈阿密人类基因组研究所开发一个生物储存库，用于集中DNA处理和样本处理。维克森林大学将建立一个数据和统计中心。本研究的主要优势是研究者的经验，特别是招募少数人群和对ICH和流行病学特别感兴趣;病例、风险因素和集中分析的统一定义;以及识别和招募研究所需的大量受试者（共6000例）的能力。

DESCRIPTION (provided by applicant): Intracerebral hemorrhage (ICH) occurs when a blood vessel ruptures within the brain parenchyma leading to neurologic injury and frequently death. Approximately 40-50% of patients who suffer from an ICH will die from the hemorrhage. Of the survivors, the majority are disabled. Thus, ICH is the subtype of stroke with the highest morbidity and mortality rates. Minority populations of African-Americans and Hispanics have been found to have roughly double the rate of ICH as whites and on average, have ICH at a younger age. Yet despite this disproportionate health care burden, fewer than 200 ICH cases among African-Americans and less than a hundred ICH cases among Hispanics have been collected with DNA available for testing. Our proposal is to collect 1000 cases of ICH among whites, 1000 cases of ICH among blacks, 1000 cases of ICH among Hispanics, and 3000 controls matched to the cases by race/ethnicity, age (5 years), gender and geographic location. Our long-term goal is to perform a genome-wide association study of intracerebral hemorrhage which includes a significant proportion of minorities with ICH. A genome-wide association study evaluates DNA with hundreds of thousands of markers to identify regions or genes which are associated with either a greater or lesser risk of ICH. However, the current proposal will not complete this type of analysis as insufficient numbers are currently available. Thus, the goals of the current proposal are to: 1) understand the risk factors of greatest importance for ICH among blacks and Hispanics; 2) determine differences in brain-imaging by race/ethnicity; 3) determine factors that mediate differences in outcomes rates by race/ethnicity; and 4) determine if Hispanics and African-Americans from different regions or national origin (such as Mexican, Cuban, etc.) are genetically different. To accomplish these goals, we have 11 recruitment centers representing 30 recruitment hospitals throughout the United States with large populations of African-Americans and Hispanics. White ICH cases from the same regions will also be recruited to account for regional differences in risk factors as well as a comparison group for risk factors, outcomes and imaging differences. A centralized neuroimaging center will be developed for uniform reading and analysis of films at Massachusetts General Hospital in conjunction with Georgetown University. A biorepository will be developed for centralized DNA processing and sample handling at the Miami Institute for Human Genomics. And a data and statistical center will be developed at Wake Forest University. The major advantages of this study are the experience of the investigators, particularly with recruitment of minority populations and particular interest in ICH and epidemiology; uniform definitions of cases, risk factors, and centralized analyses; and the ability to identify and recruit the large number of subjects (6000 total) required for the study.