The +347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han
Copyright policy )The +347 C promoter allele up-regulates MAPT expression and is associated with Alzheimer's disease among the Chinese Han
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/G 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 an up-regulation of the gene expression, is a susceptibility factor in sporadic AD.
- Ministry of Education of the People's Republic of China China (People's Republic of)
- Xuan Wu Hospital of the Capital Medical University China (People's Republic of)
Male, Transcriptional Activation, China, Genotype, DNA Mutational Analysis, Middle Aged, Polymorphism, Single Nucleotide, Asian People, Gene Expression Regulation, Gene Frequency, Alzheimer Disease, Genes, Reporter, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Luciferases, Promoter Regions, Genetic, Aged, HeLa Cells
Male, Transcriptional Activation, China, Genotype, DNA Mutational Analysis, Middle Aged, Polymorphism, Single Nucleotide, Asian People, Gene Expression Regulation, Gene Frequency, Alzheimer Disease, Genes, Reporter, Humans, Female, Genetic Predisposition to Disease, Genetic Testing, Luciferases, Promoter Regions, Genetic, Aged, HeLa Cells
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