GENETIC ANALYSIS OF PSYCHOSIS

描述（改编自申请人的摘要）：我们将研究一个相对 基因同质群体来检验基因 与精神分裂症有关。 该研究将集中在两个 人口。 第一个是来自亚速尔群岛，一个九个岛屿的群岛， 大西洋是葡萄牙的一个州。 亚速尔群岛有一个集中的 卫生系统。 岛上所有的十位精神病医生都与 我们在这个项目上。 第二个人口来自葡萄牙大陆。 亚速尔群岛的大部分人口都来自这个人口基地。 将研究有多个精神分裂症患者的家庭 采用参数和非参数分析策略。 我们 预计大约有100个家庭因精神分裂症而被隔离， 包括300多名受影响的家庭成员。 一项补充战略将 用于研究候选基因座。 我们将研究225名受试者的样本 精神分裂症患者及其父母（总计n=675）， 单倍型相对风险和传递/不平衡检验策略。 这种策略确保我们控制每个受试者的所有祖先， 使用来自双亲的非遗传单倍型。 第三 样本将包括所有其他亚速尔群岛精神分裂症患者， 我同意参加，希望，实现接近完成 亚速尔群岛精神分裂症患者的确定。 这将是一 有价值的样本连锁不平衡的方法鉴于性质 亚速尔群岛人口，并为我们提供了一个独特的流行病学框架。 这些互补的策略将使我们能够交叉验证任何积极的 结果 表型的精确诊断定义将基于 使用诊断访谈的详细结构化临床数据， 遗传学研究（DIGS），我们已经翻译成葡萄牙语。 我们 该项目的目的是捕捉一个非常完整的历史的病人 疾病，以及能够前瞻性地随访大多数受试者， 很长一段时间。 这将是非常宝贵的实现 诊断确定性和最小化假阳性。 一个重要的新 除了这个建议是怀特黑德/麻省理工学院基因组研究中心， 将进行全基因组扫描并合作进行所有数据分析 本项目

DESCRIPTION (Adapted from applicant's abstract): We will study a relatively genetically homogeneous population to test the hypotheses that genetic factors are linked to schizophrenia. The study will focus on two populations. The first is from the Azores, a nine island archipelago in the Atlantic ocean that is a Portuguese state. The Azores have a centralized health system. All ten psychiatrists on the islands are collaborating with us on this project. The second population is from continental Portugal. The majority of the Azorean population is derived from this population base. Families with multiple affected members with schizophrenia, will be studied employing both parametric and non-parametric analytic strategies. We projected approximately 100 families segregating for schizophrenia, including over 300 affected family members. A complementary strategy will be used to study candidate loci. We will study a sample of 225 subjects suffering from schizophrenia and their parents (Total n=675) employing the haplotype relative risk and the transmission/disequilibrium test strategies. This strategy insures that we control for all ancestry for each subject, using the uninherited haplotype derived from the two parents. The third sample will include all other Azorean patients with schizophrenia, who agreed to participate in hopefully, achieving close to complete ascertainment of patients with schizophrenia in the Azores. This will be a valuable sample for linkage disequilibrium approaches given the nature of the Azorean population and provide us with a unique epidemiologic frame. These complementary strategies will allow us to cross validate any positive results. The careful diagnostic definition of phenotype will be based on detailed structured clinical data employing the Diagnostic Interview for Genetic Studies (DIGS), which we have translated into Portuguese. Our project is designed to capture a very complete history of the patients illness, as well as to be able to follow most subjects prospectively for a long period of time. This will be extremely valuable for achieving diagnostic certainty and minimizing false positives. An important new addition to this proposal is the Whitehead/MIT Center for Genome Research, that will perform a genome-wide scan and collaborate on all data analysis for the project.