Li Qian, Xu Xiaotao, Qian Yinfeng, Cai Huanhuan, Zhao Wenming, Zhu Jiajia, Yu Yongqiang
Department of Radiology, Chaohu Hospital of Anhui Medical University, 238000, Hefei, China.
Department of Radiology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China.
Schizophrenia (Heidelb). 2023 Feb 25;9(1):13. doi: 10.1038/s41537-023-00338-z.
Extensive research has established the presence of resting-state brain functional damage in psychosis. However, the genetic mechanisms of such disease phenotype are yet to be unveiled. We investigated resting-state brain functional alterations in patients with drug-naive first-episode psychosis (DFP) by performing a neuroimaging meta-analysis of 8 original studies comprising 500 patients and 469 controls. Combined with the Allen Human Brain Atlas, we further conducted transcriptome-neuroimaging spatial correlations to identify genes whose expression levels were linked to brain functional alterations in DFP, followed by a range of gene functional characteristic analyses. Meta-analysis revealed a mixture of increased and decreased brain function in widespread areas including the default-mode, visual, motor, striatal, and cerebellar systems in DFP. Moreover, these brain functional alterations were spatially associated with the expression of 1662 genes, which were enriched for molecular functions, cellular components, and biological processes of the cerebral cortex, as well as psychiatric disorders including schizophrenia. Specific expression analyses demonstrated that these genes were specifically expressed in the brain tissue, in cortical neurons and immune cells, and during nearly all developmental periods. Concurrently, the genes could construct a protein-protein interaction network supported by hub genes and were linked to multiple behavioral domains including emotion, attention, perception, and motor. Our findings provide empirical evidence for the notion that brain functional damage in DFP involves a complex interaction of polygenes with various functional characteristics.
广泛的研究已证实精神病患者存在静息态脑功能损伤。然而,这种疾病表型的遗传机制尚未明确。我们通过对8项原始研究进行神经影像学荟萃分析,纳入500例患者和469例对照,调查了初发未用药的精神病患者(DFP)的静息态脑功能改变。结合艾伦人类脑图谱,我们进一步进行了转录组-神经影像学空间相关性分析,以确定其表达水平与DFP脑功能改变相关的基因,随后进行了一系列基因功能特征分析。荟萃分析显示,DFP患者在包括默认模式、视觉、运动、纹状体和小脑系统在内的广泛区域存在脑功能增强和减弱的混合情况。此外,这些脑功能改变在空间上与1662个基因的表达相关,这些基因在大脑皮层的分子功能、细胞成分和生物学过程以及包括精神分裂症在内的精神疾病方面富集。特异性表达分析表明,这些基因在脑组织、皮层神经元和免疫细胞中以及几乎所有发育阶段均有特异性表达。同时,这些基因可以构建一个由枢纽基因支持的蛋白质-蛋白质相互作用网络,并与包括情绪、注意力、感知和运动在内的多个行为领域相关联。我们的研究结果为DFP脑功能损伤涉及具有各种功能特征的多基因复杂相互作用这一观点提供了实证依据。