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脑瘫的遗传易感性涉及补体系统介导的神经元发育和可塑性途径。

Genetic susceptibility to cerebral palsy involves complement system-mediated neuronal development and plasticity pathway.

作者信息

Kun Huang, Zhou Qi, Wu Hao, Yang Dejiang, Xiong Chongyu, Zhang Xiaowei

机构信息

Department of Neurology, The First People's Hospital of Fuzhou, Fuzhou, Jiangxi, China.

Department of Neurology, Nanchang First Hospital, Nanchang, Jiangxi, China.

出版信息

Sci Rep. 2025 Jul 2;15(1):23088. doi: 10.1038/s41598-025-07178-0.

Abstract

Cerebral palsy (CP) is a complex neurological disorder characterized by motor and postural impairments, often stemming from prenatal or perinatal brain injury. Despite extensive research, the precise genetic mechanisms underlying CP remain elusive.Here, we employed genome-wide Summary-data based MR (SMR) and Mendelian randomization (MR) analysis to investigate the potential causal role of genes within the complement system in neuronal development and plasticity (CSNDP) pathway in CP pathogenesis. Leveraging summary-level data from large-scale GWAS and quantitative trait locus (QTL) studies, we assessed the associations of CSNDP-related gene expression, DNA methylation, and protein abundance with CP susceptibility.Our analysis identified several putatively causal genes associated with CP risk, including CX3CL1 and TYRO3, both implicated in neuroinflammation and synaptic modulation. Colocalization analysis provided strong evidence for shared genetic variants driving the association of CX3CL1 and TYRO3 with CP risk. Furthermore, druggability assessment revealed the potential therapeutic targets of CX3CL1 and TYRO3, supporting their relevance in CP treatment strategies. Phenome-wide association studies demonstrated no significant adverse effects of drugs targeting CX3CL1 and TYRO3 on other disease traits, suggesting their safety profile.Our findings shed light on the molecular underpinnings of CP and highlight the potential of targeted interventions within the CSNDP pathway.

摘要

脑瘫(CP)是一种复杂的神经障碍,其特征为运动和姿势受损,通常源于产前或围产期脑损伤。尽管进行了广泛研究,但CP潜在的精确遗传机制仍不清楚。在此,我们采用基于全基因组汇总数据的孟德尔随机化(SMR)和孟德尔随机化(MR)分析,以研究补体系统中基因在CP发病机制的神经元发育和可塑性(CSNDP)途径中的潜在因果作用。利用来自大规模全基因组关联研究(GWAS)和数量性状基因座(QTL)研究的汇总水平数据,我们评估了CSNDP相关基因表达、DNA甲基化和蛋白质丰度与CP易感性之间的关联。我们的分析确定了几个与CP风险相关的可能因果基因,包括CX3CL1和TYRO3,两者都与神经炎症和突触调节有关。共定位分析为驱动CX3CL1和TYRO3与CP风险关联的共享遗传变异提供了有力证据。此外,药物可及性评估揭示了CX3CL1和TYRO3的潜在治疗靶点,支持它们在CP治疗策略中的相关性。全表型关联研究表明,针对CX3CL1和TYRO3的药物对其他疾病性状没有显著不良影响,表明它们的安全性。我们的研究结果揭示了CP的分子基础,并突出了CSNDP途径中靶向干预的潜力。

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