Abstract
BackgroundMicrotubule-associated protein tau (MAPT) is a neuronal protein involved in the pathogenesis of several neurodegenerative diseases including Parkinson’s Disease (PD). Glycogen synthase kinase 3 beta (GSK3B) catalyzes phosphorylation in multiple sites of tau protein. However, whether or not there is any association between the GSK3B gene alteration, MAPT haplotype and PD remains unexplored in Chinese population, especially in central Chinese population.ResultsHere, we aimed at studying the effect of MAPT rs242562 and GSK3B rs334558 on the risk of PD by performing a case-control association study in central China. Our data showed that all PD patients and controls were of MAPT H1/H1 diplotype in our study, thus confirming that the distribution of the MAPT H1 haplotype is common in China. GG genotype of MAPT rs242562 serves protection effect on PD risk in central Chinese population, while genotype of GSK3B rs334558 showed no difference between PD patients and controls.ConclusionsWe conclude that the MAPT rs242562 is associated with PD in central China in the background of MAPT H1/H1 diplotype. The GG genotype of rs242562 displays protection against PD in subgroup with GSK3B rs334558 T carrier.
Highlights
Microtubule-associated protein tau (MAPT) is a neuronal protein involved in the pathogenesis of several neurodegenerative diseases including Parkinson’s Disease (PD)
Our study examined the possible association between Glycogen synthase kinase 3 beta (GSK3B) promoter single nucleotide polymorphism (SNP) rs334558, MAPT haplotype, MAPT intron SNP rs242562 and PD in central China
In this study, we investigated the association of MAPT rs242562 and GSK3B rs334558 with PD in central China
Summary
Microtubule-associated protein tau (MAPT) is a neuronal protein involved in the pathogenesis of several neurodegenerative diseases including Parkinson’s Disease (PD). Glycogen synthase kinase 3 beta (GSK3B) catalyzes phosphorylation in multiple sites of tau protein. Whether or not there is any association between the GSK3B gene alteration, MAPT haplotype and PD remains unexplored in Chinese population, especially in central Chinese population. Synthase kinase-3B (GSK3B), Microtubule-associated protein tau (MAPT) and other genes are associated with PD risk. The MAPT gene is localized in a region of extended linkage disequilibrium (LD) on chromosome 17q21, containing 16 exons and encoding microtubule-associated proteins tau. Concerning sub-haplotypes, there is a positive correlation between MAPT H1 haplotype and PD, including SNP rs242562 (A/G) and rs2435207 (G/A). At present, little is known about the correlation between MAPT gene polymorphism and PD patients in China, especially in central China area. Central China includes six widely agricultural provinces namely Hunan, Hubei, Jiangxi, Henan, Shanxi and Anhui
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