阿尔茨海默病欧美队列中的SORL1变体
SORL1 variants across Alzheimer's disease European American cohorts.
作者信息
Fernández Maria Victoria, Black Kathleen, Carrell David, Saef Ben, Budde John, Deming Yuetiva, Howells Bill, Del-Aguila Jorge L, Ma Shengmei, Bi Catherine, Norton Joanne, Chasse Rachel, Morris John, Goate Alison, Cruchaga Carlos
机构信息
Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA.
Hope Center for Neurological Disorders, Washington University School of Medicine, St. Louis, MO, USA.
出版信息
Eur J Hum Genet. 2016 Dec;24(12):1828-1830. doi: 10.1038/ejhg.2016.122. Epub 2016 Sep 21.
Abstract
The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants in SORL1 with putative pathogenic consequences in the recycling of APP. In this work, we examine the presence of rare coding variants in SORL1 in three different European American cohorts: early-onset, late-onset AD (LOAD) and familial LOAD.
摘要
阿尔茨海默病（AD）中有毒β淀粉样肽（Aβ）的积累很大程度上依赖于淀粉样前体蛋白（APP）的有效循环利用。最近的基因关联研究描述了SORL1中的罕见变异，这些变异在APP的循环利用中具有假定的致病后果。在这项研究中，我们在三个不同的欧美队列中检测了SORL1中罕见编码变异的存在情况：早发性、晚发性阿尔茨海默病（LOAD）和家族性LOAD。
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