@article {Fang10.1212 / WNL。0000000000207423,作者={易方和小李Si和王秦文君Zhiyun Wang Ying Chen和彝族刘yap燕和小君田Baorong张和秦文君Pu}, title ={阿尔茨海默病和癫痫:孟德尔随机化研究},elocation-id = {10.1212 / WNL。={2023}0000000000207423},年,doi = {10.1212 / WNL。出版商0000000000207423}= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={背景和ObjectivesObservational研究提出了一个双向关系{\首页 textquoteright}年代老年痴呆症(广告)和癫痫病。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)。 These associations were consistent across sensitivity analyses and replicated using a separate set of instrumental SNPs from another AD GWAS. 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.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/early/2023/05/24/WNL.0000000000207423}, eprint = {//www.ez-admanager.com/content/early/2023/05/24/WNL.0000000000207423.full.pdf}, journal = {Neurology} }