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双相情感障碍的遗传学

Genetics of bipolar disorder.

作者信息

Escamilla Michael A, Zavala Juan M

机构信息

University of Texas Health Science Center at San Antonio, South Texas Medical Genetics Research Center, 1214 Schunior St, Edinburg, TX 78539, USA.

出版信息

Dialogues Clin Neurosci. 2008;10(2):141-52. doi: 10.31887/DCNS.2008.10.2/maescamilla.

DOI:10.31887/DCNS.2008.10.2/maescamilla
PMID:18689285
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3181866/
Abstract

Bipolar disorder especially the most severe type (type I), has a strong genetic component. Family studies suggest that a small number of genes of modest effect are involved in this disorder. Family-based studies have identified a number of chromosomal regions linked to bipolar disorder, and progress is currently being made in identifying positional candidate genes within those regions. A number of candidate genes have also shown evidence of association with bipolar disorder, and genome-wide association studies are now under way, using dense genetic maps. Replication studies in larger or combined datasets are needed to definitively assign a role for specific genes in this disorder. This review covers our current knowledge of the genetics of bipolar disorder, and provides a commentary on current approaches used to identify the genes involved in this complex behavioral disorder.

摘要

双相情感障碍,尤其是最严重的类型(I型),具有很强的遗传成分。家族研究表明,少数具有中等效应的基因与这种疾病有关。基于家族的研究已经确定了一些与双相情感障碍相关的染色体区域,目前在确定这些区域内的位置候选基因方面正在取得进展。一些候选基因也显示出与双相情感障碍相关的证据,并且目前正在使用密集遗传图谱进行全基因组关联研究。需要在更大或合并的数据集中进行复制研究,以明确特定基因在这种疾病中的作用。本综述涵盖了我们目前对双相情感障碍遗传学的认识,并对用于识别参与这种复杂行为障碍的基因的当前方法进行了评论。

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本文引用的文献

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New models of collaboration in genome-wide association studies: the Genetic Association Information Network.全基因组关联研究中的新型合作模式:遗传关联信息网络
Nat Genet. 2007 Sep;39(9):1045-51. doi: 10.1038/ng2127.
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Sequence variation in DOCK9 and heterogeneity in bipolar disorder.DOCK9基因的序列变异与双相情感障碍的异质性
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Bipolar affective puerperal psychosis: genome-wide significant evidence for linkage to chromosome 16.双相情感性产褥期精神病:全基因组范围内与16号染色体连锁的显著证据。
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Is the 5-HTTLPR polymorphism associated with bipolar disorder or with suicidal behavior of bipolar disorder patients?5-羟色胺转运体基因启动子区域多态性(5-HTTLPR)与双相情感障碍或双相情感障碍患者的自杀行为有关吗?
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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.对14000例七种常见疾病患者及3000例共享对照进行全基因组关联研究。
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A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder.一项全基因组关联研究表明,二酰基甘油激酶η(DGKH)及其他几个基因与双相情感障碍的病因有关。
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Genome-wide scan of bipolar disorder and investigation of population stratification effects on linkage: support for susceptibility loci at 4q21, 7q36, 9p21, 12q24, 14q24, and 16p13.双相情感障碍的全基因组扫描及群体分层对连锁影响的研究:支持4q21、7q36、9p21、12q24、14q24和16p13处的易感基因座
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Meta-analysis reveals no association of the Val66Met polymorphism of brain-derived neurotrophic factor with either schizophrenia or bipolar disorder.荟萃分析显示,脑源性神经营养因子的Val66Met基因多态性与精神分裂症或双相情感障碍均无关联。
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