GENETIC ANALYSIS OF BIPOLAR DISORDER

描述(改编自《调查员摘要》)：调查员将 研究一个相对遗传同质的人群来检验假设 遗传因素与双相情感障碍有关。这项研究将集中在 亚速尔群岛的人口。亚速尔群岛是大西洋上的一个九岛群岛。 亚速尔群岛有一个集中的卫生系统。所有十名精神科医生都在 岛屿正在与调查人员就这一项目进行合作。这个 研究人员目前被资助在这一领域研究精神分裂症 并认为对所有患者进行研究是至关重要的 患有躁郁症，包括300多名受影响的家庭成员。飞行员 研究已经确定了25个家庭和84个受影响的成员。一个 采用互补策略对候选基因座进行研究。他们将研究一个 225例双相情感障碍患者及其父母的样本(总计 N=675)使用单倍型相对风险 传递/不平衡测试策略。这一战略确保了 调查人员控制每个受试者的所有祖先，使用未继承的 来自双亲的单倍型。第三个样本将包括所有其他 亚速尔群岛的双相情感障碍患者。这将是一个有价值的 用于评估任何已确定的突变的流行率的样本 人口。这些互补的策略将使他们能够交叉验证 任何积极的结果。对表型的仔细诊断定义将是 基于使用诊断性访谈的详细结构化临床数据 用于基因研究(挖掘)，他们已将其翻译成葡萄牙语。这个 该项目旨在捕获患者非常完整的病史 疾病，以及能够长期前瞻性地跟踪大多数受试者 一段时间。这对于实现诊断是非常有价值的 确定性，并将误报降至最低。怀特黑德/麻省理工学院基因组中心 研究部门将进行全基因组扫描，并就所有数据分析进行合作 为了这个项目。

DESCRIPTION (Adapted from the Investigator's Abstract): The investigators will study a relatively genetically homogeneous population to test the hypotheses that genetic factors are linked to bipolar disorder. The study will focus on the population of the Azores, a nine island archipelago in the Atlantic Ocean. The Azores have a centralized health system. All ten psychiatrists on the islands are collaborating with the investigators on this project. The investigators are currently funded to study schizophrenia in this same population and believe that it is critical to study all of the patients suffering with bipolar including over 300 affected family members. The pilot study has already identified 25 families with 84 affected members. A complementary strategy will be used to study candidate loci. They will study a sample of 225 subjects suffering from bipolar disorder and their parents (Total n=675) employing the haplotype relative risk and the transmission/disequilibrium test strategies. This strategy insures that the investigators 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 bipolar disorder in the Azores. This will be a valuable sample for assessing the prevalence of any mutations that are identified in the population. These complementary strategies will allow them 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 they have translated into Portuguese. The project is designed to capture a very complete history of the patient's 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. The Whitehead/MIT Center for Genome Research will perform a genome-wide scan and collaborate on all data analysis for the project.