神经损伤与功能重建2026，Vol.21Issue(3)：150-155,6.DOI:10.16780/j.cnki.sjssgncj.20241073
基于孟德尔随机化的证据:线粒体和癫痫之间的因果关系
Evidence based on Mendelian Randomization:Causality between Mitochondria and Epilepsy
摘要
Abstract
Objective:To explore the causal relationship between mitochondria and epilepsy using Mendelian randomization(MR).Methods:Single nucleotide polymorphisms(SNPs)significantly associated with mitochondrial abundance across 66 traits were utilized as instrumental variables.The inverse variance weighted(IVW)method,MR Egger regression,and weighted median approach were employed to determine the causal relationship between exposure factors and the onset of epilepsy.Additionally,Cochran's Q test,leave-one-out analysis,and MR-PRESSO were used to assess the robustness of the results.Results:Significant causal relationships were identified between three datasets and generalized epilepsy.The IVW results indicated that[pyruvate dehydrogenase(lipoamide)kinase isozyme 1]was associated with an increased risk of generalized epilepsy(OR=1.275,95％CI=1.056～1.540,PIVW=0.011,PFDR=0.017),rRNA methyltransferase 3 was also linked to a heightened risk of generalized epilepsy(OR=1.158,95％CI=1.002～1.338,PIVW=0.047,PFDR=0.047),while the essential MCU regulator was associated with a reduced risk of generalized epilepsy(OR=0.727,95％CI=0.578～0.915,PIVW=0.007,PFDR=0.020).Five datasets exhibited significant causal relationships with focal epilepsy.The IVW results revealed that ribosome recycling factor was associated with an increased risk of focal epilepsy(OR=1.085,95％CI=1.000～1.178,PIVW=0.049,PFDR=0.061),protein lysine deacylase Sirtuin 5 was also linked to a heightened risk of focal epilepsy(OR=1.080,95％CI=1.001～1.167,PIVM=0.048,PFDR=0.079),complement component 1 Q subcomponent-binding protein was associated with a reduced risk of focal epilepsy(OR=0.917,95％CI=0.861～0.977,PIVW=0.007,PDDR=0.018),serine--tRNA ligase was also linked to a decreased risk of focal epilepsy(OR=0.852,95％CI=0.779～0.934,PIVW=0.001,PFDR=0.003),and NFU1 iron-sulfur cluster scaffold homolog was associated with an increased risk of focal epilepsy(OR=1.098,95％CI=1.000～1.204,PIVW=0.049,PFDR=0.049).Sensitivity tests confirmed the robustness of the findings(all P＞0.05).Conclusion:A causal relationship between mitochondria and epilepsy has been established.关键词
癫痫/线粒体/孟德尔随机化/因果关系Key words
epilepsy/mitochondria/Mendelian randomization/causal relationship分类
医药卫生引用本文复制引用
李俊,许立涛,黄妍,赵起超,张永全..基于孟德尔随机化的证据:线粒体和癫痫之间的因果关系[J].神经损伤与功能重建,2026,21(3):150-155,6.基金项目
张永全广西名中医传承工作室(No.GZY2024019) （No.GZY2024019）
