GENETIC ANALYSIS OF BIPOLAR DISORDER

描述（改编自研究者摘要）：研究者将 研究一个相对遗传同质的群体来检验假设 遗传因素与躁郁症有关该项研究将集中 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。十位精神病医生 群岛正在就这一项目与调查人员合作。的 研究人员目前正在资助研究精神分裂症， 并认为研究所有患者至关重要， 包括300多名受影响的家庭成员。试点 研究已经确定了25个家庭，84名成员受影响。一 互补策略将用于研究候选位点。他们将学习A 样本225名受试者患有双相情感障碍和他们的父母（总 n = 675）采用单倍型相对风险和 传播/不平衡测试策略。这一战略确保了 研究人员控制了每个受试者的所有祖先，使用非遗传的 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。这将是一个宝贵的 用于评估中识别的任何突变的患病率的样本 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。表型的详细诊断定义是 基于采用诊断访谈的详细结构化临床数据， 用于遗传研究（DIGS），他们已将其翻译成葡萄牙语。的 该项目旨在捕获患者的非常完整的历史， 疾病，以及能够长期前瞻性地跟踪大多数受试者 段时间这将是非常有价值的实现诊断 确定性，并尽量减少误报。Whitehead/MIT基因组中心 研究人员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 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.