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血型基因位点对血管紧张素转换酶与阿尔茨海默病的关联没有影响。

Blood type gene locus has no influence on ACE association with Alzheimer's disease.

作者信息

Braae Anne, Medway Christopher, Carrasquillo Minerva, Younkin Steven, Kehoe Patrick G, Morgan Kevin

机构信息

Human Genetics Group, Translational Cell Sciences, School of Life Sciences, Queens Medical Centre, University of Nottingham, Nottingham, UK.

Department of Neuroscience, Mayo Clinic, College of Medicine, Jacksonville, FL, USA.

出版信息

Neurobiol Aging. 2015 Apr;36(4):1767.e1-1767.e2. doi: 10.1016/j.neurobiolaging.2015.01.013. Epub 2015 Jan 22.

Abstract

The ABO blood group locus was recently found to contribute independently and via interactions with angiotensin-converting enzyme (ACE) gene variation to plasma levels of ACE. Variation in ACE has previously been not only implicated as individually conferring susceptibility for Alzheimer's disease (AD) but also proposed to confer risk via interactions with other as yet unknown genes. More recently, larger studies have not supported ACE as a risk factor for AD, whereas the role of ACE pathway in AD has come under increased levels of scrutiny with respect to various aspects of AD pathology and possible therapies. We explored the potential combined involvement of ABO and ACE variations in the genetic susceptibility of 2067 AD cases compared with 1376 nondemented elderly. Including the effects of ABO haplotype did not provide any evidence for the genetic association of ACE with AD.

摘要

最近发现ABO血型位点不仅独立地,而且通过与血管紧张素转换酶(ACE)基因变异的相互作用,影响血浆中ACE的水平。此前研究表明,ACE变异不仅单独增加患阿尔茨海默病(AD)的易感性,还可能通过与其他未知基因的相互作用增加患病风险。然而,最近规模更大的研究并不支持ACE是AD的风险因素,而ACE途径在AD中的作用,在AD病理学的各个方面和可能的治疗方法上,受到了越来越多的审视。我们研究了2067例AD患者与1376例非痴呆老年人相比,ABO和ACE变异在遗传易感性中的潜在联合作用。纳入ABO单倍型的影响后,没有发现任何证据支持ACE与AD存在遗传关联。

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