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路易体痴呆、帕金森病和阿尔茨海默病遗传相关性的全基因组分析。

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases.

作者信息

Guerreiro Rita, Escott-Price Valentina, Darwent Lee, Parkkinen Laura, Ansorge Olaf, Hernandez Dena G, Nalls Michael A, Clark Lorraine, Honig Lawrence, Marder Karen, van der Flier Wiesje, Holstege Henne, Louwersheimer Eva, Lemstra Afina, Scheltens Philip, Rogaeva Ekaterina, St George-Hyslop Peter, Londos Elisabet, Zetterberg Henrik, Ortega-Cubero Sara, Pastor Pau, Ferman Tanis J, Graff-Radford Neill R, Ross Owen A, Barber Imelda, Braae Anne, Brown Kristelle, Morgan Kevin, Maetzler Walter, Berg Daniela, Troakes Claire, Al-Sarraj Safa, Lashley Tammaryn, Compta Yaroslau, Revesz Tamas, Lees Andrew, Cairns Nigel J, Halliday Glenda M, Mann David, Pickering-Brown Stuart, Powell John, Lunnon Katie, Lupton Michelle K, Dickson Dennis, Hardy John, Singleton Andrew, Bras Jose

机构信息

Department of Molecular Neuroscience, Institute of Neurology, UCL, London, UK.

MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.

出版信息

Neurobiol Aging. 2016 Feb;38:214.e7-214.e10. doi: 10.1016/j.neurobiolaging.2015.10.028. Epub 2015 Nov 2.

Abstract

The similarities between dementia with Lewy bodies (DLB) and both Parkinson's disease (PD) and Alzheimer's disease (AD) are many and range from clinical presentation, to neuropathological characteristics, to more recently identified, genetic determinants of risk. Because of these overlapping features, diagnosing DLB is challenging and has clinical implications since some therapeutic agents that are applicable in other diseases have adverse effects in DLB. Having shown that DLB shares some genetic risk with PD and AD, we have now quantified the amount of sharing through the application of genetic correlation estimates, and show that, from a purely genetic perspective, and excluding the strong association at the APOE locus, DLB is equally correlated to AD and PD.

摘要

路易体痴呆(DLB)与帕金森病(PD)和阿尔茨海默病(AD)之间存在诸多相似之处,涵盖临床表现、神经病理学特征以及最近发现的遗传风险决定因素。由于这些重叠特征,DLB的诊断具有挑战性且具有临床意义,因为一些适用于其他疾病的治疗药物在DLB中会产生不良反应。在表明DLB与PD和AD存在一些共同遗传风险后,我们现在通过应用遗传相关性估计来量化共同的程度,并表明,从纯粹的遗传角度来看,排除APOE基因座的强关联,DLB与AD和PD的相关性相同。

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