• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

儿童期起病精神分裂症的遗传学 2019 更新版。

Genetics of Childhood-onset Schizophrenia 2019 Update.

机构信息

Department of Psychiatry & Biobehavioral Sciences, University of California, Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90095, USA.

Department of Psychiatry & Biobehavioral Sciences, University of California, Los Angeles, 760 Westwood Plaza, Los Angeles, CA 90095, USA; Department of Psychology, University of California, Los Angeles, 502 Portola Plaza Los Angeles, CA 90095, USA; Brain Research Institute, University of California, Los Angeles, 695 Charles E Young Dr S, Los Angeles, CA 90095, USA.

出版信息

Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):157-170. doi: 10.1016/j.chc.2019.08.007. Epub 2019 Oct 17.

DOI:10.1016/j.chc.2019.08.007
PMID:31708045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6954004/
Abstract

The genetic architecture of schizophrenia is complex and highly polygenic. This article discusses key findings from genetic studies of childhood-onset schizophrenia (COS) and the more common adult-onset schizophrenia (AOS), including studies of familial aggregation and common, rare, and copy number variants. Extant literature suggests that COS is a rare variant of AOS involving greater familial aggregation of schizophrenia spectrum disorders and a potentially higher occurrence of pathogenic copy number variants. The direct utility of genetics to clinical practice for COS is currently limited; however, identifying common pathways through which risk genes affect brain function offers promise for novel interventions.

摘要

精神分裂症的遗传结构复杂且高度多基因化。本文讨论了儿童起病精神分裂症 (COS) 和更常见的成人起病精神分裂症 (AOS) 的遗传研究中的关键发现,包括家族聚集性以及常见、罕见和拷贝数变异的研究。现有文献表明,COS 是 AOS 的一种罕见变异,涉及精神分裂症谱系障碍的家族聚集性更大,以及潜在更高的致病性拷贝数变异发生率。遗传在 COS 临床实践中的直接应用目前受到限制;然而,通过风险基因影响大脑功能的常见途径来识别,为新的干预措施提供了希望。

相似文献

1
Genetics of Childhood-onset Schizophrenia 2019 Update.儿童期起病精神分裂症的遗传学 2019 更新版。
Child Adolesc Psychiatr Clin N Am. 2020 Jan;29(1):157-170. doi: 10.1016/j.chc.2019.08.007. Epub 2019 Oct 17.
2
Genetics of childhood-onset schizophrenia.儿童期起病精神分裂症的遗传学研究
Child Adolesc Psychiatr Clin N Am. 2013 Oct;22(4):675-87. doi: 10.1016/j.chc.2013.06.004. Epub 2013 Jul 23.
3
Common polygenic variation and risk for childhood-onset schizophrenia.常见多基因变异与儿童期发病精神分裂症风险
Mol Psychiatry. 2016 Jan;21(1):94-6. doi: 10.1038/mp.2014.158. Epub 2014 Dec 16.
4
Lack of Gender-Related Differences in Childhood-Onset Schizophrenia.儿童期起病的精神分裂症不存在性别相关差异。
J Am Acad Child Adolesc Psychiatry. 2016 Sep;55(9):792-9. doi: 10.1016/j.jaac.2016.05.022. Epub 2016 Jul 1.
5
Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era.儿童期起病的精神分裂症:从经典研究到基因组时代的遗传异质性系统综述。
Front Genet. 2019 Dec 18;10:1137. doi: 10.3389/fgene.2019.01137. eCollection 2019.
6
15q13.3 duplication in two patients with childhood-onset schizophrenia.两名儿童期起病精神分裂症患者存在15q13.3重复。
Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):777-83. doi: 10.1002/ajmg.b.32439. Epub 2016 Mar 10.
7
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.基因组测序拓宽了具有临床意义的精神分裂症致病变异的范围。
Transl Psychiatry. 2021 Feb 1;11(1):84. doi: 10.1038/s41398-021-01211-2.
8
Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.自杀未遂中的罕见拷贝数变异包括精神分裂症相关基因座和神经发育基因:一项全基因组和基于家系的初步研究。
PLoS One. 2016 Dec 28;11(12):e0168531. doi: 10.1371/journal.pone.0168531. eCollection 2016.
9
Improving risk assessment and familial aggregation of age at onset in schizophrenia using minor physical anomalies and craniofacial measures.利用轻微身体异常和颅面测量改善精神分裂症发病年龄的风险评估和家族聚集性。
Medicine (Baltimore). 2016 Jul;95(30):e4406. doi: 10.1097/MD.0000000000004406.
10
De novo variants in sporadic cases of childhood onset schizophrenia.儿童期起病的散发性精神分裂症病例中的新生变异
Eur J Hum Genet. 2016 Jun;24(6):944-8. doi: 10.1038/ejhg.2015.218. Epub 2015 Oct 28.

引用本文的文献

1
An uncommon neuroradiological finding of hippocampal malrotation in childhood onset schizophrenia and 22q11.2 Deletion Syndrome: a case report and a brief review of the literature.儿童期起病精神分裂症和22q11.2缺失综合征中海马旋转异常这一罕见神经放射学表现:一例病例报告及文献简要综述
Eur Child Adolesc Psychiatry. 2025 Jan;34(1):363-368. doi: 10.1007/s00787-024-02569-6. Epub 2024 Aug 20.
2
Clinical features and comorbidity in very early-onset schizophrenia: a systematic review.极早发性精神分裂症的临床特征与共病:一项系统综述
Front Psychiatry. 2023 Dec 13;14:1270799. doi: 10.3389/fpsyt.2023.1270799. eCollection 2023.
3
miRNA cargo in circulating vesicles from neurons is altered in individuals with schizophrenia and associated with severe disease.神经元来源的循环囊泡中的 miRNA 载运体在精神分裂症个体中发生改变,并与严重疾病相关。
Sci Adv. 2023 Dec;9(48):eadi4386. doi: 10.1126/sciadv.adi4386. Epub 2023 Nov 29.
4
The genetic basis of onset age in schizophrenia: evidence and models.精神分裂症发病年龄的遗传基础:证据与模型
Front Genet. 2023 Jun 27;14:1163361. doi: 10.3389/fgene.2023.1163361. eCollection 2023.
5
Significant improvement of psychotic symptoms in treatment-resistant schizophrenia with clozapine in an adolescent with SHINE syndrome: a case report.氯氮平治疗青少年 SHINE 综合征伴发难治性精神分裂症患者精神症状显著改善:1 例病例报告
BMC Psychiatry. 2023 Jun 29;23(1):483. doi: 10.1186/s12888-023-04962-y.
6
The Triad of Childhood-Onset Schizophrenia, Autism Spectrum Disorder, and Catatonia: A Case Report.儿童期起病的精神分裂症、自闭症谱系障碍和紧张症三联征:病例报告。
Schizophr Bull. 2023 Mar 15;49(2):239-243. doi: 10.1093/schbul/sbac200.
7
Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches.基因作为早发性精神分裂症的潜在标志物:来自遗传和神经影像学方法的证据。
Int J Mol Sci. 2022 Jul 5;23(13):7456. doi: 10.3390/ijms23137456.
8
A Pilot Study on Early-Onset Schizophrenia Reveals the Implication of Wnt, Cadherin and Cholecystokinin Receptor Signaling in Its Pathophysiology.一项关于早发性精神分裂症的初步研究揭示了Wnt、钙黏蛋白和胆囊收缩素受体信号通路在其病理生理学中的作用。
Front Genet. 2021 Dec 17;12:792218. doi: 10.3389/fgene.2021.792218. eCollection 2021.
9
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.与ATP1A3相关的疾病:不断扩展的临床谱。
Front Neurol. 2021 Apr 1;12:637890. doi: 10.3389/fneur.2021.637890. eCollection 2021.
10
[Neurodevelopmental Disorders, Psychiatric Comorbidities and Associated Pathologies in Patients with Childhood-Onset Schizophrenia and Premorbid Autistic Symptoms.].[儿童期起病的精神分裂症及病前孤独症症状患者的神经发育障碍、精神共病及相关病理情况。]
Can J Psychiatry. 2021 Dec;66(12):1042-1050. doi: 10.1177/0706743721990822. Epub 2021 Feb 10.

本文引用的文献

1
Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant-Mediated Risk for Neuropsychiatric Disorders.精神分裂症、自闭症及 22q11.2 拷贝数变异介导的神经精神疾病风险的突触和基因调控机制。
Biol Psychiatry. 2020 Jan 15;87(2):150-163. doi: 10.1016/j.biopsych.2019.06.029. Epub 2019 Jul 11.
2
Evidence of shared familial factors influencing neurocognitive endophenotypes in adult- and childhood-onset schizophrenia.成年起病和儿童起病精神分裂症的神经认知内表型受共享家族因素影响的证据。
Psychol Med. 2020 Jul;50(10):1672-1679. doi: 10.1017/S0033291719001715. Epub 2019 Jul 31.
3
Genomic Analysis in the Age of Human Genome Sequencing.人类基因组测序时代的基因组分析。
Cell. 2019 Mar 21;177(1):70-84. doi: 10.1016/j.cell.2019.02.032.
4
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.罕见拷贝数变异与常见单核苷酸多态性对精神分裂症风险的共同贡献。
Am J Psychiatry. 2019 Jan 1;176(1):29-35. doi: 10.1176/appi.ajp.2018.17040467. Epub 2018 Nov 5.
5
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.ATP1A3 和 FXYD 基因家族中的错义变异与儿童期发病的精神分裂症有关。
Mol Psychiatry. 2020 Apr;25(4):821-830. doi: 10.1038/s41380-018-0103-8. Epub 2018 Jun 12.
6
Genetic identification of brain cell types underlying schizophrenia.精神分裂症相关脑细胞类型的遗传鉴定。
Nat Genet. 2018 Jun;50(6):825-833. doi: 10.1038/s41588-018-0129-5. Epub 2018 May 21.
7
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.常见的精神分裂症等位基因在突变不耐受基因和受强烈背景选择的区域中富集。
Nat Genet. 2018 Mar;50(3):381-389. doi: 10.1038/s41588-018-0059-2. Epub 2018 Feb 26.
8
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.精神疾病综合征形式中的拷贝数变异:临床基因检测在精神病学中的新兴价值。
Am J Psychiatry. 2017 Nov 1;174(11):1036-1050. doi: 10.1176/appi.ajp.2017.16080946.
9
Population Stratification in Genetic Association Studies.基因关联研究中的群体分层
Curr Protoc Hum Genet. 2017 Oct 18;95:1.22.1-1.22.23. doi: 10.1002/cphg.48.
10
Precision medicine in breast cancer: reality or utopia?乳腺癌的精准医学:现实还是乌托邦?
J Transl Med. 2017 Jun 17;15(1):139. doi: 10.1186/s12967-017-1239-z.