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本文引用的文献

1
Biological insights from 108 schizophrenia-associated genetic loci.108 个精神分裂症相关遗传位点的生物学见解。
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Gene-hunt gain for mental health.
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Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity.在诱导多能干细胞(iPSCs)和小鼠中模拟精神分裂症的遗传风险揭示了与黏着连接和极性相关的神经干细胞缺陷。
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Transcriptional consequences of schizophrenia candidate miR-137 manipulation in human neural progenitor cells.精神分裂症候选miR-137在人神经祖细胞中的转录后果
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A polygenic burden of rare disruptive mutations in schizophrenia.精神分裂症中罕见的破坏性突变的多基因负担。
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De novo mutations in schizophrenia implicate synaptic networks.精神分裂症中的新突变涉及突触网络。
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7
CNVs conferring risk of autism or schizophrenia affect cognition in controls.CNVs 导致自闭症或精神分裂症的风险会影响对照组的认知能力。
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Major histocompatibility complex I in brain development and schizophrenia.脑发育与精神分裂症中的主要组织相容性复合体 I。
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DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking.DISC1 复合物与 TRAK1 和 Miro1 结合,调节顺行轴突线粒体的运输。
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10
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.全基因组关联分析确定了 13 个精神分裂症的新风险位点。
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精神分裂症的遗传学

Genetics of schizophrenia.

作者信息

Escudero Irene, Johnstone Mandy

机构信息

The Centre for Genomic and Experimental Medicine, The Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, United Kingdom.

出版信息

Curr Psychiatry Rep. 2014 Nov;16(11):502. doi: 10.1007/s11920-014-0502-8.

DOI:10.1007/s11920-014-0502-8
PMID:25200985
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6192508/
Abstract

The genetic basis of schizophrenia has been a hotly debated research topic for decades, yet recent studies, especially in the past year, have confirmed genetics as the major cause of this complex condition. Psychiatry has come of age: it is perhaps more difficult for the current generation of psychiatrists, to comprehend how the biological root of the condition could have been denied for so long. Here we review how highly collaborative global efforts to pool samples, utilise the very latest advances in genotyping and high throughput sequencing technologies, and application of robust statistical analysis have reaped phenomenal rewards. The major findings are that schizophrenia is a highly polygenic disorder with a complex array of risk loci, many include genes implicated also in intellectual disability, autism spectrum disorders, bipolar disorder and major depressive disorder. These candidate genes converge on key neuronal signalling pathways identifying novel targets for potential future therapeutic intervention.

摘要

几十年来,精神分裂症的遗传基础一直是一个备受争议的研究课题,但最近的研究,尤其是在过去一年中,已证实遗传学是这种复杂病症的主要病因。精神病学已经成熟:对于当代精神病学家来说,或许更难理解的是,这种病症的生物学根源怎么会被否认这么久。在此,我们回顾一下全球高度协作的努力,包括样本汇集、利用基因分型和高通量测序技术的最新进展,以及应用强大的统计分析所取得的显著成果。主要发现是,精神分裂症是一种高度多基因的疾病,具有一系列复杂的风险基因座,其中许多基因也与智力残疾、自闭症谱系障碍、双相情感障碍和重度抑郁症有关。这些候选基因汇聚在关键的神经元信号通路,为未来潜在的治疗干预确定了新的靶点。