A COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

描述：(改编自研究人员摘要)双相情感 精神障碍是一种严重的可遗传疾病，影响约1%的 人口数量。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。遗传连锁 研究并不是很有说服力，尽管一些关于联系的报道 复制了几次。NIMH开始了一个国家档案数据库 1988年对这种情况下的连锁基因进行了搜索。它的目的是 从合适的家庭中收集大量访谈和细胞系样本 对连锁和关联进行了研究。四个中心参加了 计划：印第安纳大学、约翰霍普金斯大学、华盛顿 圣路易斯大学和NIMH校内项目。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。查明工作始于1999年，以 确定双相I型(BPI)先证者的BPI或分裂情感性双相 类型(Sa/BP)一级相对。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 已进行了165次结构化面试，2097 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经公开 释放了。后续样本目前正在进行基因分型， 特别注意原件中确定的感兴趣的领域 调查。 建议通过下列家庭扩大本研究的范围 八个地点的公众宣传局/公众宣传局兄弟姐妹(印第安纳州、华盛顿大学圣彼得堡)。 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 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 linkages 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 lines from families suitable for linkage and association studied. Four centers participated in the initiative: Indiana University, John 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 on 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 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.