RT期刊文章SR电子T1阿尔茨海默病和癫痫摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP e399 首页OP e409 10.1212 / WNL。101签证官0000000000207423是4 A1易方A1小李Si A1秦文君王A1 Zhiyun王A1 Ying Chen A1易刘A1 yap燕A1骏田A1 Baorong张A1秦文君Pu年2023 UL //www.ez-admanager.com/content/101/4/e399.abstract AB观察性研究背景和目标提出了一个双向关系阿首页尔茨海默病(AD)和癫痫。然而,它仍然是辩论是否和方向存在因果联系。本研究旨在探讨遗传易感性之间的关系广告,脑脊液生物标志物的广告(β-amyloid Aβ42和磷酸化τ[pTau]),并与2-sample癫痫病,双向孟德尔随机化(MR)的方法。方法遗传工具获得大规模的全基因组分析的广告(Ncase /代理= 111326,Ncontrol = 677663),脑脊液生物标志物的广告(Aβ42 pTau, N = 13116)、和癫痫(Ncase = 1188金宝慱官网下载5212, Ncontrol = 29677)的欧洲血统。癫痫表型包括所有癫痫、广义癫痫、局灶性癫痫,儿童失神癫痫,少年失神癫痫,青少年肌阵挛癫痫、全身性癫痫伴tonic-clonic发作,局灶性癫痫与海马硬化(焦HS),和lesion-negative局部癫痫。主要分析运用广义总结基于数据的敏感性分析包括方差倒数加权,先生先生多向性余量和离群值,MR-Egger,加权模式,加权值。向前的结果分析,遗传素质的广告与广义的风险增加有关癫痫(比值比(或)1.053,95%可信区间1.002 - -1.105,p = 0.038)和焦HS(或1.013,95%可信区间1.004 - -1.022,p = 0.004)。这些联系是一致的在敏感性分析和复制使用一个单独的组遗传工具从另一个广告全基因组关联研究。逆向分析,暗示焦HS对广告的影响(或3.994,95%可信区间1.172 - -13.613,p = 0.027)。 In addition, genetically predicted lower CSF Aβ42 was associated with an increased risk of generalized epilepsy (β = 0.090, 95% CI 0.022–0.158, p = 0.010).Discussion This MR study supports a causal link between AD, amyloid pathology, and generalized epilepsy. This study also indicates a close association between AD and focal HS. More effort should be made to screen seizure in AD, unravel its clinical implications, and explore its role as a putative modifiable risk factor.Aβ=β-amyloid; AD=Alzheimer disease; CAE=childhood absence epilepsy; focal HS=focal epilepsy with HS; GSMR=generalized summary data-based MR; GTCS=generalized epilepsy with tonic-clonic seizure; GWAS=genome-wide association study; HS=hippocampal sclerosis; ILAE=International League Against Epilepsy; IVW=inverse variance weighted; JAE=juvenile absence epilepsy; JME=juvenile myoclonic epilepsy; MR=Mendelian randomization; MR-PRESSO=MR pleiotropy residual sum and outlier; MTL=mesial temporal lobe; OR=odds ratio; pTau=phosphorylated tau; SNP=single nucleotide polymorphism; TLE=temporal lobe epilepsy

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