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阿尔茨海默病 APP A673T 变异携带者血浆β-淀粉样蛋白减少。

Decreased plasma β-amyloid in the Alzheimer's disease APP A673T variant carriers.

机构信息

Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.

Institute of Clinical Medicine-Neurology, University of Eastern Finland, and Department of Neurology, Kuopio University Hospital, Kuopio, Finland.

出版信息

Ann Neurol. 2017 Jul;82(1):128-132. doi: 10.1002/ana.24969.

Abstract

We investigated the association of Alzheimer's disease (AD)-related rare variants APP A673T and ABCA7 rs200538373-C with the levels of β-amyloid (Aβ) and parameters of metabolic and cardiovascular health in a population-based cohort of healthy middle-aged and elderly men. Carriers of protective APP A673T variant had, on average, 28% lower levels of Aβ40 and Aβ42 in plasma as compared to the controls and the carriers of ABCA7 rs200538373-C. This is the first report to show decreased Aβ levels in plasma in APP A673T carriers and thus provides evidence that lower Aβ levels throughout life may be protective against AD. Ann Neurol 2017;82:128-132.

摘要

我们在一个基于人群的健康中年和老年男性队列中研究了阿尔茨海默病(AD)相关的罕见变异 APP A673T 和 ABCA7 rs200538373-C 与β-淀粉样蛋白(Aβ)水平以及代谢和心血管健康参数之间的关联。与对照组和 ABCA7 rs200538373-C 携带者相比,携带保护性 APP A673T 变异体的个体,其血浆中的 Aβ40 和 Aβ42 水平平均降低了 28%。这是首次报道在 APP A673T 携带者中血浆 Aβ 水平降低,从而为终生较低的 Aβ 水平可能对 AD 具有保护作用提供了证据。神经病学杂志 2017;82:128-132。

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