BIPOLAR DISORDERS GENETICS: AN AFFECTED SIB PAIR FAMILY

双相情感障碍遗传学：受影响的同胞兄弟姐妹家庭

• 批准号: 6435036
• 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/6435036
• 关键词: behavioral /social science research tag; behavioral genetics; bipolar depression; clinical research; family genetics; gene expression; genetic susceptibility; human subject; siblings

The long-term goal of the project is the identification of genes that contribute to 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 and schizophrenia are established. The completion of the first genome scan on multiplex families with bipolar affective disorder provided evidence for susceptibility regions on 13q32, 1q32 and 18p11.2 and these findings were published recently. Interestingly, these regions overlap with proposed chromosomal areas containing predisposing loci for schizophrenia. These findings raise the possibility that schizophrenia and affective disorders share some susceptibility loci. Because the linkage regions are broad, the challenge to pinpoint susceptibility genes from among many positional candidate genes (genes localized in susceptibility regions) is formidable. 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. In the past year, The NIMH-IRP site enrolled 64 BP families and completed interviews and submitted blood samples on 22 affected sibling pairs. Other families are in varying stages of completing the protocol requirements. No additional genetic analyses have been performed by the consortium as of this time.

该项目的长期目标是鉴定基因，这些基因有助于双相情感障碍的总体遗传风险以及这些基因生物学功能的表征。预计，一旦建立了对情感障碍和精神分裂症的遗传贡献，治疗，诊断和可能的预防措施将进化。对患有双相情感障碍的多重家族进行的第一个基因组扫描的完成为3Q32、1Q32和18P11.2的易感区域提供了证据，最近发表了这些发现。 有趣的是，这些区域与含有易感精神分裂症基因座的拟议染色体区域重叠。这些发现增加了精神分裂症和情感障碍具有某些敏感性基因座的可能性。 由于连锁区域很广泛，因此从许多位置候选基因（位于易感区域的基因）中，对敏感性基因的挑战是巨大的。目前，NIMH-IRP位点主要是为了收集额外的受影响的双极SIB对，以扩大NIMH赠款资助的双极遗传联盟可用的总体样本。 在过去的一年中，NIMH-IRP网站招收了64个士元家庭，并完成了面试，并在22个受影响的兄弟姐妹对上提交了血液样本。 其他家庭处于完成协议要求的不同阶段。截至这个时候，财团尚未进行其他遗传分析。