A COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

描述：（改编自研究者摘要）双相情感 疾病是一种严重的遗传性疾病， 人口。遗传方式知之甚少， 涉及多个小到中等影响的位点。遗传连锁 尽管一些关于联系的报告已经 重复了几次。NIMH开始建立国家档案数据库， 1988年，在这种情况下寻找相关基因。其目的是 从适合的家庭中收集大量的访谈样本和细胞系 联系和关联研究。四个中心参加了 倡议：印第安纳州大学、约翰霍普金斯大学、华盛顿 圣路易斯大学和NIMH校内项目。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。1999年开始确定， 鉴别双相I型（BPI）先证者是否患有BPI或分裂情感性，双相 型（Sa/BP）一级亲属。二百四十三户人家 已入组该项目，包括1025名受影响受试者。二十 对165名结构化面试者进行了2097次面试， 将永生化细胞系冷冻保存。一项基因组调查 完成了从97个家庭和8名候选人中选出的540名受试者 已经确定了联系的领域，其中一些支持以前的调查结果。 这些细胞系和相关的临床信息已公开发表。 发布 目前正在对后续样本进行基因分型， 特别注意原文件中确定的感兴趣领域， 调查. 建议将目前的研究扩展到通过以下方式确定的家庭： 八个地点的BPI/BPI同胞对（印第安纳州，华盛顿圣. 路易斯，约翰霍普金斯，宾夕法尼亚大学， 加州、圣地亚哥、犹他州大学、芝加哥大学，以及 爱荷华州大学）。总共有450个新的家族和2500个细胞系， 将添加未来四年的采访。该样品将 用于确认和扩展目前的联系发现，缩小 涉及的区域，并测试候选基因。基因型将共享 与一个研究双相情感障碍的研究者联盟合作。 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.