Open Access Highly Accessed Research article

MAPT rs242562 and GSK3B rs334558 are associated with Parkinson’s Disease in central China

Lan Yu1, Jinsha Huang1, Desheng Zhai4, Ling Liu1, Kexin Guo1, Xi Long2, Jing Xiong3, Zhentao Zhang3, Youpei Wang1, Ying Zhao5, Ping Wu6, Dingan Wang6, Zhicheng Lin789, Jing Wu10, Nian Xiong1* and Tao Wang1*

Author Affiliations

1 Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1277 Jiefang Road, Wuhan 430022, Hubei, China

2 Department of Radiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Hubei 430022, China

3 Department of Neurology, Renmin Hospital of Wuhan University, Wuhan 430060, China

4 Department of Public Health, Xinxiang Medical University, Xinxiang 453003, China

5 School of Pharmacy, Xinxiang Medical University, Henan 453003, China

6 Hefeng Central Hospital, Hefeng, Enshi, Hubei 445800, China

7 Department of Psychiatry, Harvard Medical School, Boston, MA 02114, USA

8 Laboratory of Psychiatric Neurogenomics, Division of Alcohol and Drug Abuse, and Mailman Neuroscience Research Center, McLean Hospital, Belmont, MA 02478, USA

9 Harvard NeuroDiscovery Center, Boston, MA 02114, USA

10 Key Laboratory of Environment and Health, Ministry of Education & Department of Epidemiology and Biostatistics, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Hubei 430030, China

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BMC Neuroscience 2014, 15:54  doi:10.1186/1471-2202-15-54

Published: 29 April 2014



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. 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.


Here, 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.


We 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.

MAPT H1 haplotype; GSK3β; Parkinson’s disease; Genetic risk factor