Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease
Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease
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DOI：
10.1016/j.neulet.2004.07.040
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发表时间：
2004-09-30
影响因子：
2.5
通讯作者：
Sablonnière, B
中科院分区：
文献类型：
--
作者：
Dhaenens, CM;Van Brussel, E;Sablonnière, B
淀粉样前体蛋白的转运是通过与运动蛋白轻链1(KNS2)的相互作用来实现的。我们推测Kinesin轻链功能障碍可能参与了阿尔茨海默病(AD)的发病机制。为探讨KNS2基因等位基因变异的生理学相关性，对100例AD患者和103例正常对照进行了KNS2基因5‘端非编码区或内含子序列中3个单核苷酸多态(SNPs)的关联分析。其中一个多态性(内含子13的G58836C)与AD的C等位基因显著相关(优势比=1.73，95%CI：1.12~2.67，P=0.012)。ApoE-epsilon4等位基因与KNS2基因多态性之间未见协同作用。(C)2004爱思唯尔爱尔兰有限公司。保留所有权利。
The transport of amyloid precursor protein is mediated through its interaction with kinesin light-chain 1 (KNS2). We hypothesized that kinesin light-chain dysfunction might be involved in the pathogenesis of Alzheimer's disease (AD). To assess the physiological relevance of an allelic variation in the KNS2 gene, the association analysis of three single nucleotide polymorphisms (SNPs) in the 5'UTR or in intronic sequences of KNS2 gene were performed in 100 AD brain patients and in 103 controls. For one of these polymorphisms (G58836C in intron 13), the association between AD and the C allele was found to be significant (odds ratio = 1.73, 95% CI: 1.12-2.67, P = 0.012). No synergistic effects were found between the APOE epsilon4 allele and KNS2 gene polymorphisms. (C) 2004 Elsevier Ireland Ltd. All rights reserved.