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XRCC1基因多态性在中国人群胶质瘤发生发展中的作用研究。

Investigation of the role of XRCC1 genetic polymorphisms in the development of gliomas in a Chinese population.

作者信息

Fan S C, Zhou J G, Yin J Z

机构信息

Department of Neurosurgery, The People's Hospital of Xishuangbana Dai Nationality Autonomous Prefecture, Jinghong, China.

Department of Neurosurgery, Peking University People's Hospital, Beijing, China

出版信息

Genet Mol Res. 2016 Aug 26;15(3):gmr8268. doi: 10.4238/gmr.15038268.

Abstract

We conducted a study in a Chinese Han population to investigate the role of XRCC1 gene polymorphisms (Arg399Gln and Arg194Trp) with a risk of susceptibility to gliomas. Samples from 115 patients with gliomas and 228 control subjects were consecutively collected between March 2012 and December 2014. Genotype analysis of XRCC1 Arg399Gln and Arg194Trp was performed using polymerase chain reaction-restriction fragment length polymorphism assay. All the analyses were performed using the SPSS 17.0 software package. We observed that the XRCC1 Arg399Gln and Arg194Trp genotype frequencies conformed to the Hardy-Weinberg equilibrium. We observed that the Trp/Trp genotype of XRCC1 Arg194Trp was associated with an increased risk of glioma when compared to the wild-type genotype (odds ratio (OR) = 2.14, 95% confidence interval (CI) = 1.14-3.86, P = 0.03). In the dominant model, we found that the Arg/Trp + Trp/Trp genotype of XRCC1 Arg194Trp could significantly elevate the susceptibility of developing glioma (OR = 1.79, 95%CI = 1.07-0.94). However, we observed that the XRCC1 Arg399Gln genetic polymorphism did not influence the risk of glioma. In summary, we suggest that the XRCC1 Arg194Trp genetic polymorphism could be a predictive biomarker for the susceptibility to glioma in a Chinese population.

摘要

我们在中国汉族人群中开展了一项研究,以调查XRCC1基因多态性(Arg399Gln和Arg194Trp)与胶质瘤易感性风险之间的关系。在2012年3月至2014年12月期间,连续收集了115例胶质瘤患者和228例对照者的样本。采用聚合酶链反应-限制性片段长度多态性分析方法对XRCC1 Arg399Gln和Arg194Trp进行基因分型分析。所有分析均使用SPSS 17.0软件包进行。我们观察到XRCC1 Arg399Gln和Arg194Trp的基因型频率符合Hardy-Weinberg平衡。我们观察到,与野生型基因型相比,XRCC1 Arg194Trp的Trp/Trp基因型与胶质瘤风险增加相关(比值比(OR)=2.14,95%置信区间(CI)=1.14 - 3.86,P = 0.03)。在显性模型中,我们发现XRCC1 Arg194Trp的Arg/Trp + Trp/Trp基因型可显著提高患胶质瘤的易感性(OR = 1.79,95%CI = 1.07 - 0.94)。然而,我们观察到XRCC1 Arg399Gln基因多态性不影响胶质瘤风险。总之,我们认为XRCC1 Arg194Trp基因多态性可能是中国人群中胶质瘤易感性的预测生物标志物。

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