COLLABORATIVE GENOMIC STUDY OF BIPOLAR DISORDER

描述：（改编自研究者摘要） 双相情感障碍是一种严重的遗传性疾病， 人口的百分之一。遗传方式差 了解并可能涉及多个位点的小到中度 效果遗传连锁研究并不健全，尽管一些报告 这种联系已经重复了好几次。NIMH开始了一项全国性的 1988年在档案数据库中搜索这种情况下的连锁基因。 其目的是收集大量的采访样本和细胞系， 研究适合连锁和联合的家系。四个中心 参加倡议：印第安纳州大学，约翰霍普金斯 圣路易斯大学、华盛顿大学和NIMH校内 程序.一种新的结构化多诊断访谈，诊断 遗传研究访谈（DIGS），开发和现场测试。 1992年开始确定双相I型（BPI）先证者， BPI或情感分裂型双相型（SA/BP）一级亲属。两 一百四十三个家庭参加了这个计划 包括1025名受影响受试者。2165结构 已经进行了采访，2097个永生化细胞系已经 冷冻保存。对540名受试者进行了基因组调查 从97个家庭和8个候选地区中选择了联系， 一些证据支持了先前的发现。这些细胞系和 相关临床信息已公开发布。的后续行动 目前正在对样本进行基因分型，特别关注以下领域： 在原始调查中发现的兴趣。 建议将目前的研究扩展到通过以下方式确定的家庭： 在八个地点（印第安纳州、华盛顿大学圣路易斯分校）， 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， 将增加未来四年的采访。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 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.