Yikun Gao, Yilin Li, Yina Li, Jin Wang, Qiang Cai, Lijuan Gu
Central Laboratory, Renmin Hospital of Wuhan University, Wuhan, 430060, China.
Department of Neurosurgery, Renmin Hospital of Wuhan University, Wuhan, 430060, China.
Mol Neurobiol. 2025 Apr;62(4):4677-4688. doi: 10.1007/s12035-024-04580-z. Epub 2024 Oct 31.
Elevated serum Epithelial cell adhesion molecule (EpCAM) or Platelet endothelial cell adhesion molecule (PECAM) are associated with ischemic stroke (IS), but the causality remains unclear. A two-sample Mendelian randomization (MR) study was performed to examine the causal effect of serum EpCAM or PECAM levels on the risk of IS subtypes.The study utilized GWAS datasets from European and African American populations to identify SNPs associated with serum EpCAM and PECAM levels as instrumental variables. These were then used in MR analyses for IS subtypes, employing multiple methods including IVW, weighted median, MR-Egger, and maximum likelihood. Sensitivity analyses were conducted to validate the results. No significant causal association was observed for EpCAM levels with any of three IS subtypes. Main IVW MR analysis indicated that serum PECAM levels were negatively related to the incidence of large artery stroke (LAS), small vessel stroke (SVS), and cardioembolic stroke (CES), especially CES. Sensitivity analyses confirmed the robustness of these results. Our study reveals a negative correlation between genetically predicted PECAM levels and ischemic stroke risk, particularly for cardioembolic stroke, suggesting PECAM's potential as a biomarker for risk stratification. While no clear causal relationship was found for EpCAM, these findings have significant implications for stroke prevention and treatment strategies. Further research is needed to validate these results and explore their clinical applications, potentially leading to more personalized approaches in stroke management.
血清上皮细胞粘附分子(EpCAM)或血小板内皮细胞粘附分子(PECAM)水平升高与缺血性中风(IS)相关,但因果关系仍不明确。进行了一项两样本孟德尔随机化(MR)研究,以检验血清EpCAM或PECAM水平对IS亚型风险的因果效应。该研究利用来自欧洲和非裔美国人人群的全基因组关联研究(GWAS)数据集,确定与血清EpCAM和PECAM水平相关的单核苷酸多态性(SNPs)作为工具变量。然后将这些变量用于IS亚型的MR分析,采用了包括逆方差加权法(IVW)、加权中位数法、MR-Egger法和最大似然法在内的多种方法。进行了敏感性分析以验证结果。未观察到EpCAM水平与三种IS亚型中的任何一种存在显著因果关联。主要的IVW MR分析表明,血清PECAM水平与大动脉粥样硬化性卒中(LAS)、小动脉闭塞性卒中(SVS)和心源性栓塞性卒中(CES)的发生率呈负相关,尤其是CES。敏感性分析证实了这些结果的稳健性。我们的研究揭示了基因预测的PECAM水平与缺血性中风风险之间的负相关,特别是在心源性栓塞性卒中方面,表明PECAM作为风险分层生物标志物的潜力。虽然未发现EpCAM有明确的因果关系,但这些发现对中风预防和治疗策略具有重要意义。需要进一步研究来验证这些结果并探索其临床应用,可能会在中风管理中带来更个性化的方法。