Glucocerebrosidase L444P mutation confers genetic risk for Parkinson’s disease in central China

Behavioral and Brain Functions

Youpei Wang²  Ling Liu⁴  Jing Xiong⁴  Xiaowei Zhang⁴  Zhenzhen Chen⁴  Lan Yu⁴  Chunnuan Chen⁴  Jinsha Huang⁴  Zhentao Zhang³  Asrah A Mohmed⁴  Zhicheng Lin¹  Nian Xiong⁴  Tao Wang⁴ 

[1] Harvard NeuroDiscovery Center, Boston, MA, 02114, USA

[2] Department of Neurology, Qingdao Chengyang People’s Hospital, Shandong, 266109, China

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

[4] Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Hubei, 430022, China

关键词: Central China;    R120W;    N370S;    L444P;    Glucocerebrosidase;    Parkinson’s disease;   

Others  :  793839
DOI  :  10.1186/1744-9081-8-57

 received in 2012-02-23, accepted in 2012-11-28,  发布年份 2012

【 摘 要 】

Background

Mutations of the glucocerebrosidase (GBA) gene have reportedly been associated with Parkinson disease (PD) in various ethnic populations such as Singaporean, Japanese, Formosan, Canadian, American, Portuguese, Greek, Brazilian, British, Italian, Ashkenazi Jewish, southern and southwestern Chinese. The purpose of this study is to determine in central China whether or not the reported GBA mutations remain associated with PD.

Methods

In this project, we conducted a controlled study in a cohort of 208 central Chinese PD patients and 298 controls for three known GBA mutations (L444P, N370S and R120W).

Results

Our data reveals a significantly higher frequency of L444P mutation in GBA gene of PD cases (3.4%) compared with the controls (0.3%) (P = 0.007, OR = 10.34, 95% CI = 1.26 - 84.71). Specifically, the frequency of L444P mutation was higher in the late onset PD (LOPD) cases compared with that in control subjects. The N370S and R120W mutations were detected in neither the PD group nor the control subjects.

Conclusions

Our observations demonstrated that the GBA L444P mutation confers genetic risk for PD, especially LOPD, among the population in the central China area.

【 授权许可】

   
2012 Wang et al.; licensee BioMed Central Ltd.

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