The Association between E326K of GBA and the Risk of Parkinson's Disease.
The Association between E326K of GBA and the Risk of Parkinson's Disease.
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GBA E326K 与帕金森病风险的关联
DOI：
10.1155/2018/1048084
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Yi M
中科院分区：
文献类型：
--
作者：
Huang Y;Deng L;Zhong Y;Yi M
据报道，作为戈谢病（GD）病因的GBA突变的纯合和杂合状态均与PD的风险相关。然而，GBA变体p.E326K（c.1093G > A，rs 2230288）在纯合携带者中不导致GD，引发了研究帕金森病（PD）的专家之间的争论。为了确定GBA的E326 K变体是否与PD风险相关，通过检索和筛选出版物、数据提取和统计分析进行了标准荟萃分析。最后，本分析共纳入了15篇出版物，包括5，908例PD患者和5，605例对照。E326 K基因型分析的合并OR为1.99（95%CI：1.57-2.51）。E326 K等位基因频率在PD组和对照组分别为1.67%和1.03%。次要等位基因A的合并OR为1.99（95% CI：1.58-2.50）。亚组分析发现，PD患者与对照组之间E326 K基因型和等位基因的差异也分别存在于亚洲人和高加索人中。在这项研究中，我们发现GBA的E326 K分别与总人群、亚洲人和白人的PD风险相关。GBA在PD发病机制中的作用有待进一步研究。
It is reported that both the homozygous and heterozygous states of GBA mutations which are the causes of Gaucher disease (GD) are linked to the risk of PD. However, the GBA variant p.E326K (c.1093G > A, rs2230288), which does not result in GD in homozygous carriers, has triggered debate among experts studying Parkinson's disease (PD). In order to determine if the E326K variant of GBA is associated with the risk of PD, a standard meta-analysis was conducted by searching and screening publications, data extraction, and statistical analysis. Finally, a total of 15 publications, containing 5,908 PD patients and 5,605 controls, were included in this analysis. The pooled OR of the E326K genotype analysis was 1.99 (95% CI: 1.57–2.51). The minor allele frequencies of E326K for PD patients and controls were 1.67% and 1.03%, respectively. The pooled OR for the minor allele A was 1.99 (95% CI: 1.58–2.50). According to the subgroup analysis, we found that the significant differences between PD patients and controls for both genotype and allele of E326K also exist in Asians and Caucasians, respectively. In this study, we found that E326K of GBA is associated with the risk of PD in total populations, Asians, and Caucasians, respectively. Further studies are needed to clarify the role of GBA in the pathogenesis of PD.
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DOI：
10.1155/2015/916971
发表时间：
2015
期刊：
Parkinson's disease
影响因子：
--
作者：
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作者：
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影响因子：
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DOI：
10.1056/nejmoa0901281
发表时间：
2009-10-22
期刊：
The New England journal of medicine
影响因子：
--
作者：
Sidransky E;Nalls MA;Aasly JO;Aharon-Peretz J;Annesi G;Barbosa ER;Bar-Shira A;Berg D;Bras J;Brice A;Chen CM;Clark LN;Condroyer C;De Marco EV;Dürr A;Eblan MJ;Fahn S;Farrer MJ;Fung HC;Gan-Or Z;Gasser T;Gershoni-Baruch R;Giladi N;Griffith A;Gurevich T;Januario C;Kropp P;Lang AE;Lee-Chen GJ;Lesage S;Marder K;Mata IF;Mirelman A;Mitsui J;Mizuta I;Nicoletti G;Oliveira C;Ottman R;Orr-Urtreger A;Pereira LV;Quattrone A;Rogaeva E;Rolfs A;Rosenbaum H;Rozenberg R;Samii A;Samaddar T;Schulte C;Sharma M;Singleton A;Spitz M;Tan EK;Tayebi N;Toda T;Troiano AR;Tsuji S;Wittstock M;Wolfsberg TG;Wu YR;Zabetian CP;Zhao Y;Ziegler SG
通讯作者：
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