COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

描述：(改编自研究人员摘要)双相情感 障碍是一种严重的遗传性疾病，影响到大约一个人 人口。人们对遗传方式知之甚少，很可能 涉及多个小到中等影响的基因座。基因连锁研究 一直不是很可靠，尽管一些关于关联的报告已经被复制 好几次了。NIMH开始了一个国家档案数据库，用于搜索 1988年，这种情况下的相关基因。它的目的是收集一大笔 适合连锁和家系的访谈和细胞系样本 协会研究。四个中心参与了这一倡议：印度 约翰霍普金斯大学，圣路易斯华盛顿大学， 和NIMH内部计划。一种新的结构化多诊断方法 采访，遗传学研究的诊断性采访(DIGS)，是 开发并进行了现场测试。确认工作始于1999年，以确定 双相I型(BPI)先证者或分裂情感性双相 (SA/BP)一级亲属。243个家庭 已登记参加该计划，包括1025名受影响的受试者。二十一岁 已进行了165次结构化访谈，2097次 永生化细胞系已被超低温保存。一项基因组调查已经完成 完成了从97个家庭和8名候选人中挑选的540名受试者 已经确定了关联的区域，其中一些支持了先前的发现。 这些细胞系和相关的临床信息已公开受益 释放了。一个后续样本目前正在进行基因分型，特别是 注意原始调查中确定的感兴趣的领域。 建议通过以下方式确定的家庭扩大本研究的范围 八个站点(印第安纳州、华盛顿大学圣彼得堡)的BPI-BPI兄弟姐妹对。 路易斯，约翰霍普金斯大学，宾夕法尼亚大学，宾夕法尼亚大学 加州、圣地亚哥、犹他大学、芝加哥大学和 爱荷华大学)。共有450个新家庭和2500个细胞系和 还将增加未来四年的采访内容。这个样品将是 用来确认和扩展目前的连锁发现，以缩小 涉及的区域，并测试候选基因。基因类型将被共享 与一个研究双相情感疾病的连锁关系的研究团队合作。 细胞系和访谈数据将免费提供给 科学界。

DESCRIPTION: (Adapted from investigator's abstract) Bipolar affective disorder is a severe heritable condition affecting about one person of the population. The mode of inheritance is poorly understood and probably involves multiple loci of small to moderate effect. Genic 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 ws to collect a large sample of interviews and cell lines from families suitable for linkage and association studied. Four centers participated in the initiative: Indian 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 1999 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 sixty 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 bene 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 identify 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.