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XRCC1基因多态性与中国人群子宫内膜癌风险的关联

The association between XRCC1 genetic polymorphisms and the risk of endometrial carcinoma in Chinese.

作者信息

Wang Lijuan, Lu Huaiwu, Li Jing, Zeng Hong, Liu Changhao, Chen Qing, Lin Zhongqiu

机构信息

Department of Gynecological Oncology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, Guangdong Province, People's Republic of China.

Department of Pathology, Sun Yat-Sen Memorial Hospital, Sun Yat-Sen University, Guangzhou 510120, Guangdong Province, People's Republic of China.

出版信息

Gene. 2015 Jan 10;554(2):155-9. doi: 10.1016/j.gene.2014.10.041. Epub 2014 Oct 27.

Abstract

Accumulated evidences report that X-ray repair cross-complementing group 1 gene (XRCC1) genetic polymorphisms play an important role in the development of endometrial carcinoma (EC). This study aims to evaluate the association of XRCC1 c.1161G>A and c.1804C>A genetic polymorphisms with the risk of EC. A total of 218 EC patients and 243 cancer-free controls were included in this study. The genotypes of XRCC1 genetic polymorphisms were determined by the created restriction site-polymerase chain reaction (CRS-PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. We found that these two genetic polymorphisms were statistically associated with the risk of EC. As for c.1161G>A, in comparison with GG wild genotype, the AA genotype was significantly associated with the increased risk of EC (OR=2.36, 95% CI 1.28-4.37, χ(2)=7.71, P=0.005). As for c.1804C>A, the CC genotype significantly increased the risk of EC in comparison with CC wild genotype (OR=2.77, 95% CI 1.38-5.58, χ(2)=8.54, P=0.003). Our data indicate that the A allele of c.1161G>A and c.1804C>A genetic polymorphisms could contribute to increase the risk of EC (for c.1161G>A: A versus (vs.) G, OR=1.34, 95% CI 1.02-1.76, χ(2)=4.56, P=0.033; for c.1804C>A: A vs. C, OR=1.34, 95% CI 1.01-1.77, χ(2)=4.03, P=0.045). Our results indicate that the XRCC1 c.1161G>A and c.1804C>A genetic polymorphisms significantly influenced the risk of EC in Chinese populations, and might be used as molecular markers for evaluating EC risk.

摘要

越来越多的证据表明,X射线修复交叉互补基因1(XRCC1)的基因多态性在子宫内膜癌(EC)的发生发展中起着重要作用。本研究旨在评估XRCC1基因c.1161G>A和c.1804C>A的基因多态性与EC风险之间的关联。本研究共纳入218例EC患者和243例无癌对照。采用创建限制性位点聚合酶链反应(CRS-PCR)和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测XRCC1基因多态性的基因型。我们发现这两种基因多态性与EC风险在统计学上相关。对于c.1161G>A,与GG野生基因型相比,AA基因型与EC风险增加显著相关(OR=2.36,95%CI 1.28-4.37,χ(2)=7.71,P=0.005)。对于c.1804C>A,与CC野生基因型相比,CC基因型显著增加了EC风险(OR=2.77,95%CI 1.38-5.58,χ(2)=8.54,P=0.003)。我们的数据表明,c.1161G>A和c.1804C>A基因多态性的A等位基因可能会增加EC风险(对于c.1161G>A:A与G相比,OR=1.34,95%CI 1.02-1.76,χ(2)=4.56,P=0.033;对于c.1804C>A:A与C相比,OR=1.34,95%CI 1.01-1.77,χ(2)=4.03,P=0.045)。我们的结果表明,XRCC1基因c.1161G>A和c.1804C>A的基因多态性显著影响中国人群患EC的风险,可能作为评估EC风险的分子标志物。

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