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GBA突变对帕金森病表型的影响:一项针对中国人群的研究及荟萃分析

Effect of GBA Mutations on Phenotype of Parkinson's Disease: A Study on Chinese Population and a Meta-Analysis.

作者信息

Zhang Yuan, Sun Qi-Ying, Zhao Yu-Wen, Shu Li, Guo Ji-Feng, Xu Qian, Yan Xin-Xiang, Tang Bei-Sha

机构信息

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.

Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China ; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan 410008, China.

出版信息

Parkinsons Dis. 2015;2015:916971. doi: 10.1155/2015/916971. Epub 2015 Sep 2.

Abstract

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.

摘要

GBA已被确定为帕金森病(PD)的一个遗传风险因素。携带或不携带GBA突变的PD患者的临床表现是否不同,目前仍未达成共识。我们首先在1147例中国PD患者中检测了GBA突变L444P,并同时评估了他们相应的临床数据。然后,我们通过荟萃分析比较了全球646例携带GBA突变的PD患者和10344例不携带GBA突变的PD患者的表型。通过荟萃分析方法,在比较携带和不携带GBA突变的PD患者时,发病年龄(MD = -3.10 [95%CI:-4.88,-1.32])、以运动迟缓为初始症状(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。然而,在以震颤为初始症状方面(OR = 0.81 [95%CI:0.64,1.03]),两组比较时运动症状的严重程度,如H-Y(MD = 0.06 [95%CI:-0.06,0.17])和UPDRS-III(MD = 1.61 [95%CI:-0.65,3.87])以及有异动症(OR = 1.60 [95%CI:0.90,2.84])均无统计学差异。我们的结果表明,携带GBA突变的PD患者的表型与非携带者不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e34c/4572432/382ec00157af/PD2015-916971.001.jpg

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