COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

双相情感障碍是一种严重的遗传性疾病， 大约占人口的百分之一 遗传方式差 了解并可能涉及多个位点的小到中度 效果 遗传连锁研究并不可靠，尽管有些研究表明， 有关这种联系的报告已多次重复。 NIMH开始 一个国家档案数据库，用于搜索 1988年的条件。其目的是收集大量的样本， 访谈和适合连锁的家庭的细胞系， 协会研究。四个中心参加了该倡议： 印第安纳州大学、约翰霍普金斯大学、华盛顿大学 圣路易斯和NIMH校内项目。 新的结构化 多诊断访谈，遗传学研究诊断访谈 （DIGS），开发和现场测试。 确定工作始于1992年 为了鉴定具有BPI或分裂情感的双相I型（BPI）先证者， 双极型（SA/BP）一级亲属。 二百四十三个 包括1025个受影响的家庭在内， 科目 2165次结构化面试已经完成， 已经冷冻保存了2097个永生化细胞系。 一 从97个样本中筛选出540个样本， 已经确定了家庭和八个联系的候选地区， 一些支持以前的研究结果。 这些细胞系和相关的 临床信息已公开发布。 后续样本为 目前正在进行基因分型，特别注意的领域， 在原始调查中发现的兴趣。 建议延长 本研究通过由BPI-BPI同胞对鉴定的家族， 八个地点（印第安纳州，华盛顿圣路易斯大学，约翰霍普金斯， 宾夕法尼亚大学、加州大学圣地亚哥分校 犹他州大学、芝加哥大学和爱荷华州大学）。 一 总共有450个新的家庭和2500个细胞系， 未来四年将增加。 该样本将用于确认和 扩展目前的关联发现，缩小涉及的区域， 并测试候选基因。 基因型将与一个财团共享 研究双相情感障碍的研究者们。 细胞系和 采访数据将免费提供给科学家， 社区

Bipolar affective disorder is a severe heritable condition affecting about one percent of the population. The mode of inheritance is poorly understood and probably involves multiple loci of small to moderate effect. Genetic linkage studies have not been robust although some reports of linkage have been replicated several times. The NIMH began a national archival database for search of linked genes in this condition in 1988. Its purpose was to collect a large sample of interviews and cell line from families suitable for linkage and association studied. Four centers participated in the initiative: Indiana University, Johns Hopkins University, Washington University of St. Louis, and the NIMH Intramural Program. A new structured polydiagnostic interview, the Diagnostic Interview for Genetic Studies (DIGS), was developed and field-tested. Ascertainment was begun in 1992 to identify Bipolar I (BPI) probands with a BPI or Schizoaffective, Bipolar type (SA/BP) first degree relative. Two hundred and forty-three families have been enrolled in the program including 1025 affected subjects. Twenty one hundred sixth five structured interviews have been given and 2097 immortalized cell lines have been cryopreserved. A genomic survey has been completed on 540 subjects selected from 97 families and eight candidate areas for linkage have been identified, some supporting previous findings. These cell lines and related clinical information has been publicly released. A follow-up sample is presently being genotyped, with particular attention to areas of interest identified in the original survey. It is proposed to extend the present study through families identified by a BPI-BPI sib pair at eight sites (Indiana, Washington University of St. Louis, Johns Hopkins, University of Pennsylvania, University of California, San Diego University of Utah, University of Chicago, and University of Iowa). A total of 450 new families and 2500 cell lines and interviews over the next four years will be added. This sample will be used to confirm and extend present findings of linkage, to narrow the implicated regions, and to test candidate genes. Genotypes will be shared with a consortium of investigators studying linkage in bipolar illness. Cell lines and interview data will be made freely available to the scientific community.