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位于[具体位置1]的rs3129882/rs4248166以及位于[具体位置2]的rs34372695与中国中部人群的散发性帕金森病无关。

The rs3129882/rs4248166 in and rs34372695 in are not associated with sporadic Parkinson's disease in Central Chinese population.

作者信息

Li Jie, Jian Lubao, Huang Jinsha, Xiong Nian, Wang Tao

机构信息

Department of Neurology, TaikangTongji (Wuhan) Hospital, Wuhan, Hubei, China.

Department of Neurology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, China.

出版信息

Int J Neurosci. 2021 Jul;131(7):674-680. doi: 10.1080/00207454.2020.1753728. Epub 2020 Apr 15.

DOI:10.1080/00207454.2020.1753728
PMID:32253955
Abstract

BACKGROUND

Parkinson's disease (PD) is a common progressive neurodegenerative disorder. Up to now, several single-nucleotide polymorphisms (SNPs) located in virulence gene sites have been reported linked to PD. Candidate gene association studies and genome-wide association studies have identified rs3129882, rs4248166 in and rs34372695 in as risk factors for familial or sporadic PD. However, the association between variants of , and PD are still controversial, especially in the Central Chinese population. We here performed a case-control study to investigate whether and genes could predispose to sporadic PD in the Chinese population.

METHODS

We investigate 486 PD patients and 457 age- and sex-matched controls from Central China to assess this association.

RESULTS

In the allele model, the odds ratio (OR) result of rs3129882 was 0.905 ( 0.287). Moreover, no significant difference was observed in the association between rs424816 (OR = 0.864,  = 0.106) and rs34372695 ( = 1.0) with PD risk. Genotypic analysis in SNP rs3129882, rs4248166 and rs34372695 indicated no significant association with PD. Subgroup analysis of our data showed age-onset and gender were not associated with either genotype or minor allele frequencies of rs3129882 and rs4248166. Moreover, the negative results were also observed in a meta-analysis of studies of rs3129882 from mainland China and Taiwanese population.

CONCLUSIONS

Our results reveal that rs3129882, rs4248166 and rs34372695 do not confer significant risks for sporadic PD in the Central Chinese population.

摘要

背景

帕金森病(PD)是一种常见的进行性神经退行性疾病。截至目前,已有报道称位于毒力基因位点的多个单核苷酸多态性(SNP)与PD相关。候选基因关联研究和全基因组关联研究已确定,[具体基因名称1]中的rs3129882、rs4248166以及[具体基因名称2]中的rs34372695为家族性或散发性PD的风险因素。然而,[具体基因名称1]、[具体基因名称2]的变体与PD之间的关联仍存在争议,尤其是在中国中部人群中。我们在此进行了一项病例对照研究,以调查[具体基因名称1]和[具体基因名称2]基因是否会使中国人群易患散发性PD。

方法

我们调查了来自中国中部的486例PD患者和457例年龄及性别匹配的对照,以评估这种关联。

结果

在等位基因模型中,rs3129882的优势比(OR)结果为0.905([置信区间下限值] 0.287)。此外,rs424816(OR = 0.864,[P值] = 0.106)和rs34372695([P值] = 1.0)与PD风险之间的关联未观察到显著差异。SNP rs3129882、rs4248166和rs34372695的基因分型分析表明与PD无显著关联。我们数据的亚组分析显示,发病年龄和性别与rs3129882和rs4248166的基因型或次要等位基因频率均无关联。此外,对来自中国大陆和台湾人群的rs3129882研究的荟萃分析也得到了阴性结果。

结论

我们的结果表明,rs3129882、rs4248166和rs34372695在中国中部人群中不会赋予散发性PD显著风险。

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The rs3129882/rs4248166 in and rs34372695 in are not associated with sporadic Parkinson's disease in Central Chinese population.位于[具体位置1]的rs3129882/rs4248166以及位于[具体位置2]的rs34372695与中国中部人群的散发性帕金森病无关。
Int J Neurosci. 2021 Jul;131(7):674-680. doi: 10.1080/00207454.2020.1753728. Epub 2020 Apr 15.
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Association between HLA rs3129882 polymorphism and Parkinson's disease: a meta-analysis.HLA rs3129882基因多态性与帕金森病的关联:一项荟萃分析
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HLA rs3129882 variant in Chinese Han patients with late-onset sporadic Parkinson disease.中国汉族晚发性散发性帕金森病患者 HLA rs3129882 变异。
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