文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
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
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
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 @ 2025

主要精神疾病之间共享的分子神经病理学与多基因重叠相似。

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

作者信息

Gandal Michael J, Haney Jillian R, Parikshak Neelroop N, Leppa Virpi, Ramaswami Gokul, Hartl Chris, Schork Andrew J, Appadurai Vivek, Buil Alfonso, Werge Thomas M, Liu Chunyu, White Kevin P, Horvath Steve, Geschwind Daniel H

出版信息

Science. 2018 Feb 9;359(6376):693-697. doi: 10.1126/science.aad6469.


DOI:10.1126/science.aad6469
PMID:29439242
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5898828/
Abstract

The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how genetic variants impart brain dysfunction or pathology. We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders-autism, schizophrenia, bipolar disorder, depression, and alcoholism-compared with matched controls. We identified patterns of shared and distinct gene-expression perturbations across these conditions. The degree of sharing of transcriptional dysregulation is related to polygenic (single-nucleotide polymorphism-based) overlap across disorders, suggesting a substantial causal genetic component. This comprehensive systems-level view of the neurobiological architecture of major neuropsychiatric illness demonstrates pathways of molecular convergence and specificity.

摘要

神经精神疾病的易感性涉及复杂、多基因和多效性的遗传结构。然而,关于基因变异如何导致脑功能障碍或病理变化,我们知之甚少。我们使用转录组分析作为基于大脑分子表型的定量读数,对五种主要精神疾病——自闭症、精神分裂症、双相情感障碍、抑郁症和酒精中毒——与匹配的对照组进行比较。我们确定了这些疾病中共享和独特的基因表达扰动模式。转录失调的共享程度与各疾病间基于单核苷酸多态性的多基因重叠相关,这表明存在重要的因果遗传成分。这种对主要神经精神疾病神经生物学结构的全面系统层面观点揭示了分子趋同和特异性的途径。

相似文献

[1]
Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

Science. 2018-2-9

[2]
Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools.

Brain. 2022-3-29

[3]
Polygenic risk for five psychiatric disorders and cross-disorder and disorder-specific neural connectivity in two independent populations.

Neuroimage Clin. 2017-2-13

[4]
Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis.

Genome Med. 2023-8-1

[5]
Characterizing the Genetic Overlap Between Psychiatric Disorders and Sleep-Related Phenotypes.

Biol Psychiatry. 2021-11-1

[6]
The shared genetic basis of mood instability and psychiatric disorders: A cross-trait genome-wide association analysis.

Am J Med Genet B Neuropsychiatr Genet. 2022-9

[7]
Transcriptomic Insight Into the Polygenic Mechanisms Underlying Psychiatric Disorders.

Biol Psychiatry. 2021-1-1

[8]
Functional genomics links genetic origins to pathophysiology in neurodegenerative and neuropsychiatric disease.

Curr Opin Genet Dev. 2020-12

[9]
Research review: Polygenic methods and their application to psychiatric traits.

J Child Psychol Psychiatry. 2014-10

[10]
A comprehensive gene-centric pleiotropic association analysis for 14 psychiatric disorders with GWAS summary statistics.

BMC Med. 2021-12-13

引用本文的文献

[1]
The role of low subcortical iron, white matter myelin, and oligodendrocytes in schizophrenia: a quantitative susceptibility mapping and diffusion tensor imaging study.

Mol Psychiatry. 2025-9-5

[2]
Neurodevelopmentally rooted epicenters in schizophrenia: sensorimotor-association spatial axis of cortical thickness alterations.

Mol Psychiatry. 2025-8-28

[3]
Aberrant Modular Dynamics of Functional Networks in Schizophrenia and Their Relationship With Neurotransmitter and Gene Expression Profiles.

Hum Brain Mapp. 2025-8-15

[4]
Multi-organ AI Endophenotypes Chart the Heterogeneity of Pan-disease in the Brain, Eye, and Heart.

medRxiv. 2025-8-13

[5]
Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

medRxiv. 2025-7-16

[6]
Could the Polymorphisms of DOCK4 (rs147636134), SYNGAP1 (rs199759879), and FOXP1 (rs767001715) be the Primary Risk Factors for Bipolar Disorder and Autism Spectrum Disorder?

Dev Neurobiol. 2025-10

[7]
Genetic risk effects on psychiatric disorders act in sets.

medRxiv. 2025-7-23

[8]
Single-nucleus chromatin accessibility profiling identifies cell types and functional variants contributing to major depression.

Nat Genet. 2025-8

[9]
Neurobiological subtypes of adolescent depression: a multimodal integration of morphometric similarity network and spatial transcriptomics.

Mol Psychiatry. 2025-8-2

[10]
Deciphering transcriptomic signatures in schizophrenia, bipolar disorder, and major depressive disorder.

Front Psychiatry. 2025-7-14

本文引用的文献

[1]
The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders.

Mol Psychiatry. 2017-9-19

[2]
Microglia emerge as central players in brain disease.

Nat Med. 2017-9-8

[3]
qSVA framework for RNA quality correction in differential expression analysis.

Proc Natl Acad Sci U S A. 2017-6-20

[4]
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

Mol Autism. 2017-5-22

[5]
The road to precision psychiatry: translating genetics into disease mechanisms.

Nat Neurosci. 2016-10-26

[6]
Gene expression elucidates functional impact of polygenic risk for schizophrenia.

Nat Neurosci. 2016-11

[7]
Genome-wide association study identifies 74 loci associated with educational attainment.

Nature. 2016-5-26

[8]
Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses.

Nat Genet. 2016-6

[9]
Schizophrenia risk from complex variation of complement component 4.

Nature. 2016-2-11

[10]
Purification and Characterization of Progenitor and Mature Human Astrocytes Reveals Transcriptional and Functional Differences with Mouse.

Neuron. 2016-1-6

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索