Abstract
Mutations of glucocerebrosidase (GBA) confer susceptibility to Parkinson's disease in several ethnical populations, with a high incidence especially in the Ashkenazi Jewish population. Although there are several studies that have investigated a similar association in a Chinese population, small sample sizes and few positive outcomes have made it difficult to obtain conclusive results from these individual studies. Therefore, the present study used a meta-analysis approach, pooling the appropriate data from published studies to investigate the association of GBA mutations and Parkinson's disease in a Chinese population. Nine studies containing 6536 Chinese subjects (3438 cases and 3098 healthy controls) and examining the GBA mutations of L444P, N370S and several other mutations were included. Review Manager 5.2 software was applied to analyze the pooled odds ratios (ORs) and 95% confidence intervals (CIs). The results showed a significant association of Parkinson's disease risk with overall GBA mutations (OR = 6.34, 95% CI = 3.77–10.68, p<0.00001), and with the subgroup of L444P mutation (OR = 11.68, 95% CI = 5.23–26.06, p<0.00001). No such association was observed for the subgroup with N370S mutation or other mutations, in part because of the small sample size or rare events. Thus, for the rare occurrence of GBA mutations, studies with larger sample size are necessary to minimize the sampling error and to obtain convincing results.
Highlights
Parkinson disease (PD), which ranks second only to Alzheimer’s disease among neurodegenerative disorders, is characterized pathologically by the degeneration of dopaminergic neurons in nigrostriatal system and clinically by insidiously progressive movement impairments, such as rigidity, bradykinesia, impaired balance and tremor at rest [1]
In addition to aging and environmental factors, genetic risk is considered as a critical factor for PD, including mutations in SNCA, LRRK2 and MAPT genes and other genomic loci, which have been identified as susceptibility genes for familial and common sporadic forms of PD [2]
There were 11 records excluded for repeated studies or no interested outcome, and three records excluded for insufficient data or no healthy controls
Summary
Parkinson disease (PD), which ranks second only to Alzheimer’s disease among neurodegenerative disorders, is characterized pathologically by the degeneration of dopaminergic neurons in nigrostriatal system and clinically by insidiously progressive movement impairments, such as rigidity, bradykinesia, impaired balance and tremor at rest [1]. Mutations of glucocerebrosidase (GBA) gene which located at chromosome 1q21 and encoding the enzyme glucocerebrosidase [3], have been significantly associated with PD susceptibility in Ashkenazi Jewish patients [4]. Subsequent to this finding, further evidence for this relationship was provided in non-Ashkenazi Jewish population, some studies reported negative results [5, 6]. To examine the relationship between GBA mutations and PD risk within Chinese population, we reviewed the relevant studies, determined the most studied mutations, and performed a meta-analysis
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