COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

双相情感障碍是一种严重的遗传性疾病，影响 约占总人口的百分之一。继承方式较差 了解并可能涉及多个小到中等的基因座 效果。遗传连锁研究并不是很有力，尽管有些 关于这种联系的报道已经被重复了好几次。NIMH开始了 一个国家档案数据库，用于搜索与此相关的基因 1988年的情况。它的目的是收集大量的样本 来自适合连锁和家系的家庭的采访和细胞系 协会研究。有四个中心参与了这项倡议： 印第安纳大学、约翰霍普金斯大学、华盛顿大学 圣路易斯和NIMH校内计划。一种新的结构 多诊断性访谈--遗传学研究的诊断性访谈 (DIGS)，已经开发并进行了实地测试。确认工作始于1992年。 为了识别具有BPI或分裂情感的双相I型(BPI)先证者， 双极型(SA/BP)一级亲属。243 已有家庭参加了该计划，其中包括1025个受影响的家庭 研究对象。二十六万六千五百份结构化面试 已有和2097个永生化细胞系被超低温保存。一个 从97名受试者中挑选了540名受试者进行了基因组调查 已经确定了连锁的家族和八个候选区域， 一些人支持之前的发现。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，特别注意以下领域 在最初的调查中确定的兴趣。建议延长 本研究通过由BPI-BPI同胞对识别的家族进行研究 八个地点(印第安纳州、华盛顿圣路易斯大学、约翰·霍普金斯大学、 宾夕法尼亚大学、加州大学圣地亚哥分校 犹他大学、芝加哥大学和爱荷华大学)。一个 总共有450个新家庭和2500个细胞系，并在 接下来的四年将被加上。此样本将用于确认和 扩展现有的连锁发现，以缩小牵连区域， 并测试候选基因。基因分型将与一个财团共享 研究双相情感障碍的连锁关系的研究人员。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.