COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

双相情感障碍的合作基因组研究

• 批准号: 6392426
• 负责人: John P. Rice
• 金额: $ 130.28万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 1998
• 资助国家: 美国
• 起止时间: 1998-09-30 至 2004-03-14
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6392426
• 关键词: bipolar depression; cell line; clinical research; cooperative study; cryopreservation; data collection methodology /evaluation; disease /disorder etiology; family genetics; gene expression; gene frequency; genetic disorder; genetic markers; genetic registry /resource /referral center; genetic susceptibility; genotype; human genetic material tag; human subject; interview; linkage disequilibriums; linkage mapping; mental disorder diagnosis; polymerase chain reaction

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 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, 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 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 int he program including 1025 affected subjects. Twenty one hundred sixty five structured interviews have been given and 2097 immortalized cells 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.

描述：(改编自调查人员摘要) 双相情感障碍是一种严重的遗传性疾病，影响大约 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。基因连锁研究并不是很有说服力，尽管一些报告 这种关联已经被复制了几次。NIMH开始了一项全国性的 1988年用于搜索这种情况下的连锁基因的档案数据库。 它的目的是收集大量的采访和细胞系样本 研究了适合连锁和联想的家系。四个中心 参与倡议：印第安纳大学，约翰·霍普金斯 圣路易斯华盛顿大学和NIMH内部壁画 程序。一种新的结构化多诊断访谈--诊断 制定了遗传研究访谈(DIGS)，并进行了实地测试。 1992年开始确定双相I型(BPI)先证者的身份 BPI或分裂情感性双极型(SA/BP)一级亲属。二 已有三个家庭报名参加这项计划 包括1025名受影响的受试者。20,165结构化 接受了采访，并获得了2097个永生化细胞系 超低温保存。一项针对540名受试者的基因组调查已经完成。 从97个家系中选出了8个候选连锁区域 已经确定，其中一些支持先前的研究结果。这些细胞系和 相关临床信息已公开发布。后续行动 样本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。 建议通过下列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 加利福尼亚州、犹他州圣地亚哥大学、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。