GENETIC STUDY OF STATUS EPILEPTICUS IN TWIN KINDRIDS

双胞胎癫痫持续状态的遗传学研究

基本信息

批准号：
6565221
负责人：
Linda A. Corey
金额：
$ 14.03万
依托单位：
VIRGINIA COMMONWEALTH UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2002
资助国家：
美国
起止时间：
2002-02-01 至 2003-01-31
项目状态：
已结题

项目摘要

Status epilepticus (SE) represents an important neurological problem that is associated with significant mortality and moribundity. Although some epidemiologic information is available on characteristics of individuals in whom SE has occurred, little is known about the specific factors contributing to its risk of occurrence. We have recently shown that genetic factors play an important role in determining SE risk, however, the nature of the specific genetic factors involved remains to be determined. Information collected on the frequency of Se in members of the twin registries maintained by the Department of Human Genetics at Virginia Commonwealth University and among their first degree relatives will provide valuable information pertinent to the factors important in its etiology. The primary objective of the proposed study is to continue an investigation of the role of genetic factors in determining risk for SE. Twin and twin kindred studies provide an efficient means for examining the roles of genetic and environmental influences in the etiology of complex disorders like SE. For this reason, SE-positive twins and conjunction with these twin populations currently contains information on over 39,000 twin pairs and their families. The proposed study will focus upon a validated sample that is estimated to include more than 290 twin pairs and 500 twin kindreds who are positive for a history of SE in addition to two groups of controls, one negative for seizures positive for seizures but negative for SE. We believe that the number of validated SE twin pairs expected is a conservative estimate and that we will be able to validate additional cases in the AARP sample and through incident cases in young twins. Data pertinent to selected demographic variables, type and frequency of seizures, and previous history of epilepsy and related health problems will continue to be collected on SE-affected individuals in addition to information on the occurrence of SE in first degree relatives and used in later analyses. Cases will be validated using medical records. Seizure and epileptic syndrome types will be classified using the International Classifications of Seizures and of Epilepsy and Epileptic Syndromes. The unique structure of the data set to be collected will permit the use of several methodological approaches in evaluating the hypotheses put forth. Standard epidemiological methods will be used to examine the role of specific environmental and demographic variables on the occurrence of SE. Multiplex SE-positive twin kindreds will be 4evaluated using segregation analysis techniques. Logistic regression techniques will be used in more detailed analyses of the importance of genetic and specific environmental factors in the development of SE. This study provides the first opportunity ever available to delineate the specific role of genetic factors in determining the risk for SE.

癫痫持续状态（SE）代表了一个重要的神经系统问题，与显着的死亡率和死亡率相关。尽管有一些流行病学信息可用于有关发生SE的个体的特征，但对导致其发生风险的特定因素知之甚少。我们最近表明，遗传因素在确定SE风险方面起着重要作用，但是，所涉及的特定遗传因素的性质仍有待确定。收集的有关SE频率在弗吉尼亚联邦大学人类遗传学部维护的双胞胎注册机构中的信息，其一级亲戚将提供与其病因重要因素有关的有价值的信息。拟议的研究的主要目的是继续研究遗传因素在确定SE风险中的作用。双胞胎和双胞胎研究提供了一种有效的手段，用于检查遗传和环境影响在SE等复杂疾病的病因中的作用。因此，Se阳性双胞胎和与这些双胞胎人群的结合目前包含有关39,000多对双胞胎及其家人的信息。拟议的研究将集中于经过验证的样本，估计包括290多个双胞胎对和500个双胞胎，这些样本除了两组对照组外，对SE的史呈阳性，其中一种是癫痫发作的癫痫发作阳性，但SE为阴性。我们认为，预期的已验证的SE两对数的数量是保守的估计，我们将能够验证AARP样本中的其他案例以及通过年轻双胞胎的事件。除了在一级亲戚中出现SE发生的信息外，还将继续收集与选定的人口统计学变量，癫痫发作的类型和频率以及先前的癫痫病和相关健康问题的历史有关的数据。病例将使用医疗记录进行验证。癫痫发作和癫痫综合征类型将使用癫痫发作，癫痫和癫痫综合征的国际分类进行分类。要收集的数据集的独特结构将允许使用几种方法学方法来评估提出的假设。标准流行病学方法将用于检查特定环境和人口统计学变量对SE发生的作用。使用隔离分析技术将对多重SE阳性双胞胎的亲戚进行4次化。逻辑回归技术将用于对遗传和特定环境因素在SE发展中的重要性进行更详细的分析。这项研究提供了有史以来第一个机会来描述遗传因素在确定SE风险中的特定作用。