PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population
PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population
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PITX3基因多态性与中国人群帕金森病的相关性
DOI：
10.1016/j.brainres.2011.03.064
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发表时间：
2011-05-25
期刊：
影响因子：
2.9
通讯作者：
Guo, Ji-feng
中科院分区：
文献类型：
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作者：
Liu, Jia;Sun, Qi-ying;Guo, Ji-feng
据报道，PITX3 基因的遗传变异与多个人群中的帕金森病 (PD) 相关。我们进行了病例对照研究，对512名中国大陆PD患者和506名健康对照者的PITX3基因的三个SNP：rs2281983、rs4919621和rs3758549进行了基因分型。我们的研究结果表明，PITX3 基因 rs3758549 多态性与 PD 相关（p=0.02）。此外，晚发帕金森病患者与健康对照之间的差异更大（p=0.007）。本研究中散发性PD（SPD）组与健康对照组PITX3基因rs2281983或rs4919621变异体的基因型或等位基因频率无统计学差异。为了评估 PITX3 基因 rs3758549 多态性在 PD 中的可能作用，我们对此主题进行了荟萃分析。 Meta分析结果进一步支持PITX3基因rs3758549多态性与PD相关：Z=3.09，p=0.002，OR=0.89。这些发现提示PITX3基因rs3758549多态性可能增加PD的易感性。 (C) 2011 Elsevier B.V. 保留所有权利。
Genetic variants of PITX3 gene have been reported to be associated with Parkinson's disease (PD) in several populations. We conducted a case-control study and genotyped the three SNPs of PITX3 gene: rs2281983, rs4919621 and rs3758549 in 512 mainland Chinese PD patients and 506 healthy controls. Our findings show that the PITX3 gene rs3758549 polymorphism is associated with PD (p=0.02). Moreover, the difference between late onset PD patients and healthy controls is stronger (p=0.007). There is no statistical difference in genotype or allele frequencies of rs2281983 or rs4919621 variant in PITX3 gene between sporadic PD (SPD) group and healthy control group in our study. To assess the possible role of the PITX3 gene rs3758549 polymorphism in PD, we conducted a meta-analysis on the topic. The results of meta-analysis further support that the PITX3 gene rs3758549 polymorphism is associated with PD: Z=3.09, p=0.002, OR=0.89. These findings suggest that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of PD. (C) 2011 Elsevier B.V. All rights reserved.