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精神分裂症:从基因到表型再到疾病。

Schizophrenia: from genes to phenes to disease.

作者信息

Allan Charlotte L, Cardno Alastair G, McGuffin Peter

机构信息

Academic Unit of Psychiatry and Behavioral Sciences, Leeds Institute of Health Sciences, University of Leeds, Charles Thackrah Building, 101 Clarendon Road, Leeds LS2 9LJ, United Kingdom.

出版信息

Curr Psychiatry Rep. 2008 Aug;10(4):339-43. doi: 10.1007/s11920-008-0054-x.

DOI:10.1007/s11920-008-0054-x
PMID:18627673
Abstract

This article provides an overview of the past year's literature on schizophrenia genetics. Quantitative genetics continues to be an important foundation in which family and twin studies have been used to evaluate potential endophenotypes. Research in molecular genetics has focused on detecting multiple genes of small effect, and developments relating to key positional and functional candidate genes are reviewed. Large-scale, multicenter studies are proving to be important in this quest. Research using neuroimaging and animal modeling studies continues to link genotype with phenotype. It is increasingly apparent that some candidate genes considered important in schizophrenia are likely to be relevant to the etiology of other psychotic disorders, including bipolar disorder. This notion may challenge traditional disease classifications, not only in research but potentially in clinical practice.

摘要

本文概述了过去一年关于精神分裂症遗传学的文献。数量遗传学仍然是一个重要基础,其中家族和双生子研究已被用于评估潜在的内表型。分子遗传学研究聚焦于检测多个小效应基因,并对与关键定位和功能候选基因相关的进展进行了综述。大规模、多中心研究在这一探索过程中被证明很重要。使用神经影像学和动物模型的研究继续将基因型与表型联系起来。越来越明显的是,一些在精神分裂症中被认为重要的候选基因可能与包括双相情感障碍在内的其他精神障碍的病因相关。这一观念可能会挑战传统的疾病分类,不仅在研究中如此,在临床实践中也可能如此。

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TSNARE1 polymorphisms are associated with schizophrenia susceptibility in Han Chinese.TSNARE1基因多态性与汉族人群精神分裂症易感性相关。
J Neural Transm (Vienna). 2015 Jun;122(6):929-32. doi: 10.1007/s00702-014-1348-2. Epub 2014 Dec 4.
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Consistent etiology of severe, frequent psychotic experiences and milder, less frequent manifestations: a twin study of specific psychotic experiences in adolescence.

本文引用的文献

1
No significant association of 14 candidate genes with schizophrenia in a large European ancestry sample: implications for psychiatric genetics.在一个大型欧洲血统样本中,14个候选基因与精神分裂症无显著关联:对精神科遗传学的启示。
Am J Psychiatry. 2008 Apr;165(4):497-506. doi: 10.1176/appi.ajp.2007.07101573. Epub 2008 Jan 15.
2
Cis- and trans- loci influence expression of the schizophrenia susceptibility gene DTNBP1.顺式和反式位点影响精神分裂症易感基因DTNBP1的表达。
Hum Mol Genet. 2008 Apr 15;17(8):1169-74. doi: 10.1093/hmg/ddn006. Epub 2008 Jan 8.
3
No association with the 5,10-methylenetetrahydrofolate reductase gene and major depressive disorder: results of the depression case control (DeCC) study and a meta-analysis.
严重、频发的精神病性体验与较轻、较少发作表现的一致病因:一项关于青少年特定精神病性体验的双生子研究
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4
Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.多巴胺能基因多态性与印度北部精神分裂症队列的认知功能。
J Psychiatr Res. 2013 Nov;47(11):1615-22. doi: 10.1016/j.jpsychires.2013.07.007. Epub 2013 Aug 8.
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Genetics of schizophrenia from a clinicial perspective.精神分裂症的临床遗传学研究
Int Rev Psychiatry. 2012 Oct;24(5):393-404. doi: 10.3109/09540261.2012.709178.
6
New visual information processing abnormality biomarker for the diagnosis of Schizophrenia.用于精神分裂症诊断的新型视觉信息处理异常生物标志物。
Expert Opin Med Diagn. 2011 Jul 1;5(4):357-368. doi: 10.1517/17530059.2011.586029.
5,10-亚甲基四氢叶酸还原酶基因与重度抑郁症无关联:抑郁症病例对照(DeCC)研究及荟萃分析结果
Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):699-706. doi: 10.1002/ajmg.b.30665.
4
Substantial genetic overlap between neurocognition and schizophrenia: genetic modeling in twin samples.神经认知与精神分裂症之间存在显著的基因重叠:双生子样本中的基因建模
Arch Gen Psychiatry. 2007 Dec;64(12):1348-55. doi: 10.1001/archpsyc.64.12.1348.
5
Neuregulin 1 genotype and schizophrenia.神经调节蛋白1基因型与精神分裂症
Schizophr Bull. 2008 Jan;34(1):9-12. doi: 10.1093/schbul/sbm129. Epub 2007 Nov 20.
6
Making sense of neuroimaging in psychiatry.理解精神病学中的神经影像学。
Acta Psychiatr Scand. 2008 Feb;117(2):100-17. doi: 10.1111/j.1600-0447.2007.01111.x. Epub 2007 Nov 19.
7
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Arch Gen Psychiatry. 2007 Nov;64(11):1242-50. doi: 10.1001/archpsyc.64.11.1242.
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The DISC locus in psychiatric illness.精神疾病中的DISC基因座。
Mol Psychiatry. 2008 Jan;13(1):36-64. doi: 10.1038/sj.mp.4002106. Epub 2007 Oct 2.
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Endophenotypes in the genetic analyses of mental disorders.精神障碍遗传分析中的内表型
Annu Rev Clin Psychol. 2006;2:267-90. doi: 10.1146/annurev.clinpsy.2.022305.095232.
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Neurochem Int. 2007 Jul-Sep;51(2-4):165-72. doi: 10.1016/j.neuint.2007.06.018. Epub 2007 Jun 27.