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散发性帕金森病汉族患者基因变异的系统分析。

Systematic analysis of genetic variants in Han Chinese patients with sporadic Parkinson's disease.

作者信息

Yuan Lamei, Song Zhi, Deng Xiong, Zheng Wen, Guo Yi, Yang Zhijian, Deng Hao

机构信息

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha, China.

Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, China.

出版信息

Sci Rep. 2016 Sep 22;6:33850. doi: 10.1038/srep33850.

Abstract

Parkinson's disease (PD) is one of the most common neurodegenerative disorders. Accumulated evidence confirms that genetic factors play a considerable role in PD pathogenesis. To examine whether point variants or haplotypes are associated with PD development, genotyping of 35 variants in 22 PD-related genes was performed in a well-characterized cohort of 512 Han Chinese PD patients and 512 normal controls. Both Pearson's χ test and haplotype analysis were used to evaluate whether variants or their haplotypes were associated with PD in this cohort. The only statistically significant differences in genotypic and allelic frequencies between the patients and the controls were in the DnaJ heat shock protein family (Hsp40) member C10 gene (DNAJC10) variant rs13414223 (P = 0.004 and 0.002, respectively; odds ratio = 0.652, 95% confidence interval: 0.496-0.857). No other variants or haplotypes exhibited any significant differences between these two groups (all corrected P > 0.05). Our findings indicate that the variant rs13414223 in the DNAJC10 gene, a paralog of PD-related genes DNAJC6 and DNAJC13, may play a protective role in PD. This suggests it may be a PD-associated gene.

摘要

帕金森病(PD)是最常见的神经退行性疾病之一。越来越多的证据证实,遗传因素在帕金森病的发病机制中起着相当重要的作用。为了研究点变异或单倍型是否与帕金森病的发生有关,我们对512例汉族帕金森病患者和512例正常对照组成的特征明确的队列进行了22个帕金森病相关基因中35个变异的基因分型。使用Pearson卡方检验和单倍型分析来评估这些变异或其单倍型是否与该队列中的帕金森病有关。患者和对照之间基因型和等位基因频率的唯一统计学显著差异存在于DnaJ热休克蛋白家族(Hsp40)成员C10基因(DNAJC10)变异rs13414223中(P分别为0.004和0.002;优势比=0.652,95%置信区间:0.496 - 0.857)。两组之间没有其他变异或单倍型表现出任何显著差异(所有校正P>0.05)。我们的研究结果表明,DNAJC10基因中的变异rs13414223,作为帕金森病相关基因DNAJC6和DNAJC13的旁系同源基因,可能在帕金森病中起保护作用。这表明它可能是一个与帕金森病相关的基因。

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