SORL1 is genetically associated with Alzheimer disease in a Japanese population
SORL1 is genetically associated with Alzheimer disease in a Japanese population
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DOI：
10.1016/j.neulet.2009.06.014
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发表时间：
2009-09-11
影响因子：
2.5
通讯作者：
Takeda, Masatoshi
中科院分区：
文献类型：
--
作者：
Kimura, Ryo;Yamamoto, Mitsuko;Takeda, Masatoshi
最近的一项研究报道，神经元分拣蛋白相关受体基因（SORL 1）的变体增加了几个人群中迟发性阿尔茨海默病（AD）的风险。在这里，我们研究了一个大的，充分表征的437晚发性AD患者和451名对照组在日本人口的风险效应。在8个单核苷酸多态性（SNPs）的SORL 1基因的关联已被报道，我们发现了一个显着的关联，其中4个，位于外显子24和内含子37之间。这种风险在非载脂蛋白E-FD 4等位基因携带者中是明显的，但在其携带者中不是。我们的研究结果支持SORL 1的遗传变异影响迟发性AD易感性的证据。(C)2009爱思唯尔爱尔兰有限公司保留所有权利。
A recent study reported that variants of the neuronal sortilin-related receptor gene (SORL1) increased the risk of late-onset Alzheimer disease (AD) in several populations. Here, we examined the risk effect in a large, well-characterized group of 437 late-onset AD patients and 451 control subjects in a Japanese population. Among eight single-nucleotide polymorphisms (SNPs) of the SORL1 gene for which association has been reported, we found a significant association for four of them, located between exon 24 and intron 37. This risk was evident in non-carriers of the apolipoprotein E-epsilon 4 allele, but not in its carriers. Our results support the evidence that genetic variants of SORL1 affect susceptibility to late-onset AD. (C) 2009 Elsevier Ireland Ltd. All rights reserved.