% 0期刊文章%一个易方%一个小李Si %秦文君王% Zhiyun王% Ying Chen %一个彝族刘% yap燕% 6月田% Baorong张%秦文君Pu % T阿尔茨海默病和癫痫:孟德尔随机化研究% D R 10.1212 / WNL 2023%。0000000000207423 % J首页神经病学% P 10.1212 / WNL。0000000000207423 X %的背景和ObjectivesObservational研究表明阿尔茨海默病(AD)之间的双向关系,癫痫病。然而,它仍然是辩论是否和方向存在因果联系。本研究旨在探索遗传易感性之间的关系广告,脑脊液生物标志物的广告(Aβ42 pTau)和两个示例的癫痫病,双向孟德尔随机化(MR)的方法。MethodsGenetic仪器得到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188金宝慱官网下载(Ncase = 15212, 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,与海马硬化灶性癫痫,lesion-negative局灶性癫痫。主要分析运用广义总结基于数据的孟德尔随机化(GSMR)。敏感性分析包括IVW MR-PRESSO MR-Egger,加权模式,加权值。ResultsFor前进分析,遗传素质的广告与全身性癫痫的风险增加(或= 1.053,95% CI: 1.002∼1.105, P = 0.038),并与海马硬化灶性癫痫(或= 1.013,95% CI: 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仪器来自另一个广告GWAS的snp。 For reverse analysis, there was a suggestive effect of focal epilepsy with hippocampal sclerosis on AD (OR = 3.994, 95%CI: 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).DiscussionThe present MR study supports a causal link between AD, amyloid pathology, and generalized epilepsy. This study also indicates a close association between AD and focal epilepsy with hippocampal sclerosis. More effort should be made to screen seizure in AD, unravel its clinical implications, and explore its role as a putative modifiable risk factor. %U //www.ez-admanager.com/content/neurology/early/2023/05/24/WNL.0000000000207423.full.pdf