Association study of three polymorphisms of kinesin light-chain 1 gene with Alzheimer's disease

被引:24
作者
Dhaenens, CM
Van Brussel, E
Schraen-Maschke, S
Pasquier, F
Delacourte, A
Sablonnière, B
机构
[1] Univ Lille 2, INSERM U422, Lab G Biserte, Grp Vieillissement Cerebral & Malad Neurodegenera, F-59045 Lille, France
[2] Univ Lille 2, Fac Med, F-59045 Lille, France
[3] Ctr Hosp Reg & Univ Lille, Hop R Salengro, Clin Neurol & Ctr Memoire, F-59037 Lille, France
关键词
Alzheimer's disease; single nucleotide polymorphisms; kinesin light-chain gene; case-control study;
D O I
10.1016/j.neulet.2004.07.040
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
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.
引用
收藏
页码:290 / 292
页数:3
相关论文
共 19 条
[1]   Human kinesin light (beta) chain gene: DNA sequence and functional characterization of its promoter and first exon [J].
Chernajovsky, Y ;
Brown, A ;
Clark, J .
DNA AND CELL BIOLOGY, 1996, 15 (11) :965-974
[2]   Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: Implications for Alzheimer's disease [J].
Ebneth, A ;
Godemann, R ;
Stamer, K ;
Illenberger, S ;
Trinczek, B ;
Mandelkow, EM ;
Mandelkow, E .
JOURNAL OF CELL BIOLOGY, 1998, 143 (03) :777-794
[3]   Tau phosphorylation, tangles, and neurodegeneration: The chicken or the egg? [J].
Geschwind, DH .
NEURON, 2003, 40 (03) :457-460
[4]  
GOLDSTEIN LS, 1991, TRENDS CELL BIOL, V4, P93
[5]   Kinesin molecular motors: Transport pathways, receptors, and human disease [J].
Goldstein, LSB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2001, 98 (13) :6999-7003
[6]   Disruption of axonal transport and neuronal viability by amyloid precursor protein mutations in Drosophila [J].
Gunawardena, S ;
Goldstein, LSB .
NEURON, 2001, 32 (03) :389-401
[7]   Islet-brain1/C-Jun N-terminal kinase interacting protein-1 (IB1/JIP-1) promoter variant is associated with Alzheimer's disease [J].
Helbecque, N ;
Abderrhamani, A ;
Meylan, L ;
Riederer, B ;
Mooser, V ;
Miklossy, J ;
Delplanque, J ;
Boutin, P ;
Nicod, P ;
Haefliger, JA ;
Cottel, D ;
Amouyel, P ;
Froguel, P ;
Waeber, G .
MOLECULAR PSYCHIATRY, 2003, 8 (04) :413-422
[8]   A scaffold protein JIP-1b enhances amyloid precursor protein phosphorylation by JNK and its association with kinesin light chain 1 [J].
Inomata, H ;
Nakamura, Y ;
Hayakawa, A ;
Takata, H ;
Suzuki, T ;
Miyazawa, K ;
Kitamura, N .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (25) :22946-22955
[9]   Axonal transport of amyloid precursor protein is mediated by direct binding to the kinesin light chain subunit of kinesin-I [J].
Kamal, A ;
Stokin, GB ;
Yang, ZH ;
Xia, CH ;
Goldstein, LSB .
NEURON, 2000, 28 (02) :449-459
[10]   Kinesin-mediated axonal transport of a membrane compartment containing β-secretase and presenilin-1 requires APP [J].
Kamal, A ;
Almenar-Queralt, A ;
LeBlanc, JF ;
Roberts, EA ;
Goldstein, LSB .
NATURE, 2001, 414 (6864) :643-648