Zhang Houwen, Li Chunrong, Yu Jialin, Liang Yu, Wu You, Cao Fangzheng
Department of Neurology, The Second Affiliated Hospital of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
The Second Clinical Medical College of Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.
Brain Behav. 2025 Sep;15(9):e70815. doi: 10.1002/brb3.70815.
Parkinson's disease (PD) is a progressive neurodegenerative condition characterized by motor impairments and intricate pathophysiological mechanisms. Although cerebrospinal fluid (CSF) metabolites are viewed as potential biomarkers, the primarily observational design of the majority of existing studies limits the ability to draw causal conclusions.
The purpose of this research was to explore the causal link between CSF metabolites and PD by employing two-sample Mendelian randomization (TSMR).
Data on CSF metabolites were acquired from the two longitudinal cohort studies. Information regarding PD was gathered from the International Parkinson's Disease Genomics Consortium. Instrumental variables (IVs) for 338 CSF metabolites were identified based on notable SNPs. Causal impacts were assessed using Mendelian randomization techniques including inverse variance weighted (IVW) analysis and MR-Egger regression. The analyses included sensitivity assessments to evaluate issues related to heterogeneity and pleiotropy.
Significant causal associations were found between several CSF metabolites and PD. Higher levels of glycerophosphoinositol, sphingomyelin, and oxalate were linked to increased PD risk, while elevated caffeine levels appeared protective. After FDR correction, glycerophosphoinositol, oxalate, and caffeine remained significant. Sensitivity analyses confirmed robustness with no heterogeneity or pleiotropy.
This analysis of MR reveals multiple CSF metabolites that have causal links to PD. Increased levels of glycerophosphoinositol and oxalate are associated with higher risk, whereas caffeine provide protective benefits. These metabolites may act as potential biomarkers and treatment targets for PD.
帕金森病(PD)是一种进行性神经退行性疾病,其特征为运动障碍和复杂的病理生理机制。尽管脑脊液(CSF)代谢物被视为潜在的生物标志物,但大多数现有研究的主要观察性设计限制了得出因果结论的能力。
本研究的目的是通过采用两样本孟德尔随机化(TSMR)来探索脑脊液代谢物与帕金森病之间的因果关系。
脑脊液代谢物的数据来自两项纵向队列研究。关于帕金森病的信息从国际帕金森病基因组学联盟收集。基于显著的单核苷酸多态性(SNPs)确定了338种脑脊液代谢物的工具变量(IVs)。使用孟德尔随机化技术评估因果影响,包括逆方差加权(IVW)分析和MR-Egger回归。分析包括敏感性评估,以评估与异质性和多效性相关的问题。
发现几种脑脊液代谢物与帕金森病之间存在显著的因果关联。甘油磷酸肌醇、鞘磷脂和草酸盐水平升高与帕金森病风险增加有关,而咖啡因水平升高似乎具有保护作用。经过错误发现率(FDR)校正后,甘油磷酸肌醇、草酸盐和咖啡因仍然显著。敏感性分析证实了结果的稳健性,不存在异质性或多效性。
这项孟德尔随机化分析揭示了多种与帕金森病有因果关系的脑脊液代谢物。甘油磷酸肌醇和草酸盐水平升高与较高风险相关,而咖啡因具有保护作用。这些代谢物可能作为帕金森病的潜在生物标志物和治疗靶点。