Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population
Glucocerebrosidase Gene L444P Mutation is a Risk Factor for Parkinson's Disease in Chinese Population
复制标题
葡萄糖脑苷脂酶基因L444P突变是中国人群帕金森病的危险因素
DOI：
10.1002/mds.23009
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发表时间：
2010-06-15
影响因子：
8.6
通讯作者：
Tang, Bei-Sha
中科院分区：
文献类型：
--
作者：
Sun, Qi-Ying;Guo, Ji-Fen;Tang, Bei-Sha
葡萄糖脑苷脂酶（GBA）基因突变与帕金森病（PD）之间的关联已在多个人群中报道。我们在402名中国PD患者和413名年龄和性别匹配的对照中搜索了四种常见的GBA突变（L444 P，F213 I，R353 W和N370 S）。在PD队列中，发现11例患者携带杂合GBA突变，所有患者均携带L444 P突变。在对照组中未检测到杂合子GBA突变。GBA基因L444 P突变在PD患者中的检出率（11/402 = 2.74%）显著高于对照组（0/413）：P = 0.0007。为了评估GBA基因L444 P突变在德系犹太人和非犹太人群体中PD中的可能作用，我们对该主题进行了荟萃分析。在中国人群中，PD患者中GBA基因L444 P突变的检出率显著高于对照组：Z = 3.83，P = 0.0001，OR = 8.42，置信区间= 95%，2.83-25.06。在非犹太人群中，差异有显著性：Z = 5.76，P < 0.00001，OR = 8.82，可信区间= 95%，4.21 ~ 18.48。提示GBA基因L444 P突变可能是中国人PD的危险因素。(C)2010年运动障碍协会
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson's disease (PD) has been reported in several populations. We searched for four common GBA mutations (L444P, F213I, R353W, and N370S) in 402 Chinese PD patients and 413 age- and sex-matched controls. In the PD cohort, 11 patients were found carrying a heterozygous GBA mutation and all of them had the L444P mutation. Heterozygous GBA mutations were detected none in controls. The GBA gene L444P mutation was detected at a significantly higher frequency among PD patients (11/402 = 2.74%), when compared with the control group (0/413): P = 0.0007. To evaluate the possible role of the GBA gene L444P mutation in PD in Ashkenazi Jewish and non-Jewish populations, we conducted a meta-analysis on the topic. In the Chinese population, the GBA gene L444P mutation was detected at a significantly higher frequency among PD patients, when compared with the control group: Z = 3.83, P = 0.0001, OR = 8.42, confidence interval = 95%, 2.83-25.06. In the non-Jewish populations, the difference was obviously significant: Z = 5.76, P < 0.00001, OR = 8.82, confidence interval = 95%, 4.21-18.48. The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population. (C) 2010 Movement Disorder Society