Effect of GBA Mutations on Phenotype of Parkinson's Disease: A Study on Chinese Population and a Meta-Analysis.
Effect of GBA Mutations on Phenotype of Parkinson's Disease: A Study on Chinese Population and a Meta-Analysis.
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GBA 突变对帕金森病表型的影响：中国人群研究及荟萃分析
DOI：
10.1155/2015/916971
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发表时间：
2015
期刊：
影响因子：
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通讯作者：
Tang BS
中科院分区：
文献类型：
--
作者：
Zhang Y;Sun QY;Zhao YW;Shu L;Guo JF;Xu Q;Yan XX;Tang BS
GBA已被确定为帕金森病的遗传危险因素。是否有GBA突变的PD患者的临床表现是否不同，目前还没有达成共识。我们首先在1147名中国PD患者中检测到GBA突变L444P，并同时评估其相应的临床数据。然后，我们通过meta分析比较了全球646例GBA突变PD患者和10344例无GBA突变PD患者的表型。通过meta分析的方法，有和没有GBA突变的PD患者在发病年龄（MD = - 3.10 [95% CI: - 4.88, - 1.32]）、以运动迟缓为首发症状（OR = 1.49 [95% CI: 1.15, 1.94]）、有家族史（OR = 1.50 [95% CI: 1.18, 1.91]）和痴呆（OR = 3.21 [95% CI: 1.97, 5.24]）方面存在显著差异。而在以震颤为首发症状方面（OR = 0.81 [95% CI: 0.64, 1.03]），运动症状如H-Y （MD = 0.06 [95% CI: - 0.06, 0.17]）和UPDRS-III （MD = 1.61 [95% CI: - 0.65, 3.87]）和运动障碍（OR = 1.60 [95% CI: 0.90, 2.84]）的严重程度两组比较无统计学差异。我们的研究结果表明，GBA突变的PD患者的表型与GBA非携带者不同。
GBA has been identified as a genetic risk factor for PD. Whether the clinical manifestations of PD patients with or without GBA mutations are different has still not reached a consensus. We firstly detected the GBA mutation L444P in 1147 Chinese PD patients and simultaneously evaluated their corresponding clinical data. Then we compared the phenotypes between 646 PD patients with GBA mutations and 10344 PD patients without GBA mutations worldwide through meta-analysis. Through the method of meta-analysis, there was significant difference in age at onset (MD = −3.10 [95% CI: −4.88, −1.32]), bradykinesia as an initial symptom (OR = 1.49 [95% CI: 1.15, 1.94]), having family history (OR = 1.50 [95% CI: 1.18, 1.91]), and dementia (OR = 3.21 [95% CI: 1.97, 5.24]) during the comparison between PD patients with and without GBA mutations. While, in the aspect of tremor as an initial symptom (OR = 0.81 [95% CI: 0.64, 1.03]), the severity of motor symptoms such as H-Y (MD = 0.06 [95% CI: −0.06, 0.17]) and UPDRS-III (MD = 1.61 [95% CI: −0.65, 3.87]) and having dyskinesia (OR = 1.60 [95% CI: 0.90, 2.84]) during the comparison between the two groups revealed no statistical differences. Our results suggested that the phenotypes of PD patients with GBA mutations are different from GBA noncarriers.