机构：[1]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Key Neurodegenerative Laboratory of Ministry of Education of the People’s Republic of China, Beijing 100053, China神经内科首都医科大学宣武医院
The microtubule-associated protein tau has been known to be associated with the pathogenesis of Alzheimer's disease (AD). We identified a novel single nucleotide polymorphism (SNP) in the promoter region of the microtubule-associated protein tau gene (MAPT) in Chinese Han population: 347G/C. The samples we analyzed were all identified as H1/H1 genotype; the 347C allele was over-represented in 252 sporadic AD patients (84.3%, P=0.006) when compared with 197 controls (75.1%). The transcriptional activity of SNP in promoter was further investigated using a luciferase reporter assay in two human cell lines, SH-SY5Y and Hela. We demonstrated that the promoter transcriptional activity of the 347 C/C genotype was significantly higher than that of the 347 G/C genotype (SH-SY5Y, P=0.0321; Hela, P=0.0016). Our data suggest that the 347C polymorphism in the promoter of MAPT gene, which is associated with all up-regulation of the gene expression. is a susceptibility factor in sporadic AD. (C) 2008 Published by Elsevier Ireland Ltd.
基金：
National Key Technology R&D Program in the Eleventh Five-year Plan Period (2006BAI02B01), the National Basic Research 973 Program (2006CB500700),
Beijing Natural Science Foundation (7071004), and Funding Project for Academic Human Resources Development in Institutions of Higher Learning Under the Jurisdiction of Beijing Municipality.
第一作者机构：[1]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, Key Neurodegenerative Laboratory of Ministry of Education of the People’s Republic of China, Beijing 100053, China
通讯作者：
通讯机构：[*]Department of Neurology, Xuan Wu Hospital of the Capital Medical University, 45 Changchun Street, Beijing 100053, China.
推荐引用方式(GB/T 7714)：
Wenjun Sun,Jianping Jia.The+347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han[J].NEUROSCIENCE LETTERS.2009,450(3):340-343.doi:10.1016/j.neulet.2008.11.067.
APA：
Wenjun Sun&Jianping Jia.(2009).The+347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han.NEUROSCIENCE LETTERS,450,(3)
MLA：
Wenjun Sun,et al."The+347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han".NEUROSCIENCE LETTERS 450..3(2009):340-343
