Bipolar Disorder Genetics: An Affected Sib Pair Family S

双相情感障碍遗传学：受影响的同胞对家庭 S

• 批准号: 6681068
• 负责人: DENNIS L MURPHY
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF MENTAL HEALTH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/6681068
• 关键词: behavioral /social science research tag; behavioral genetics; bipolar depression; clinical research; disease /disorder proneness /risk; family genetics; gene expression; genetic susceptibility; human subject; siblings

The long-term goal of the project is the identification of genes that contribute to the overall genetic risk in bipolar disorder and the characterization of the biological function of these genes. It is anticipated that improvements in treatment, diagnosis and possibly prevention will evolve once genetic contributions to affective disorders are established. At present, the NIMH-IRP site is functioning primarily to collect additional affected bipolar sib pairs to enlarge the overall sample available to the NIMH grant-funded Bipolar Genetics consortium. The NIMH-IRP site has now enrolled and completely ascertained a total of 77 BP sibling pairs and their families (more than any other of the ten nationwide sites in the Consortium). The total number of probands and family members evaluated by our site is 349. 331 blood samples have been submitted for DNA analysis. Other families are in varying stages of completing the protocol requirements. Much of the interview and DNA collection work in the past year was devoted to the families of probands who entered this study previously. The completion of the first genome scan on multiplex families with bipolar affective disorder by our consortium provided evidence for susceptibility regions on 13q32, 1q32 and 18p11.2. Additional findings were published recently. Interestingly, some of these regions overlap with proposed chromosomal areas containing predisposing loci for schizophrenia. These results raise the possibility that schizophrenia and affective disorders share some susceptibility loci. Identifying candidate gene (genes localized in susceptibility regions) will require use of developing genetic technologies.

该项目的长期目标是鉴定导致双相情感障碍总体遗传风险的基因，并表征这些基因的生物学功能。预计一旦确定遗传因素对情感障碍的影响，治疗、诊断和可能的预防方面将会取得进展。目前，NIMH-IRP 站点的主要功能是收集更多受影响的双相情感障碍同胞对，以扩大 NIMH 拨款资助的双相情感障碍遗传学联盟可用的总体样本。 NIMH-IRP 站点现已登记并完全确定了总共 77 对 BP 兄弟姐妹及其家人（比该联盟的 10 个全国站点中的任何其他站点都要多）。我们网站评估的先证者和家庭成员总数为 349 人。已提交 331 份血液样本进行 DNA 分析。其他家庭处于完成协议要求的不同阶段。去年的大部分采访和 DNA 采集工作都是针对之前参与这项研究的先证者的家庭。我们的联盟完成了对双相情感障碍多重家族的首次基因组扫描，为 13q32、1q32 和 18p11.2 上的易感区域提供了证据。最近发表了更多研究结果。有趣的是，其中一些区域与提议的含有精神分​​裂症易感位点的染色体区域重叠。这些结果提出了精神分裂症和情感障碍共享某些易感位点的可能性。识别候选基因（位于易感区域的基因）需要使用正在开发的遗传技术。