DNA修复基因XRCC1和ERCC1多态性与中国甘肃省汉族女性散发性乳腺癌风险

DNA repair genes XRCC1 and ERCC1 polymorphisms and the risk of sporadic breast cancer in Han women in the Gansu Province of China.

作者信息

Zhu Gongjian, Wang Lan, Guo Hongyun, Lu Lingeng, Yang Suisheng, Wang Tao, Guo Huan, Wang Haitao, Min Jianping, Yang Kai, Chen Xuezhong, Liu Yuanqiang, Wang Zhiping, Su Haixiang

机构信息

1 Gansu Provincial Academy of Medical Sciences, Gansu Provincial Cancer Hospital , Lanzhou, People's Republic of China .

2 School of Life Sciences, Lanzhou University , Lanzhou, China .

出版信息

Genet Test Mol Biomarkers. 2015 Jul;19(7):387-93. doi: 10.1089/gtmb.2015.0001. Epub 2015 May 11.

DOI:10.1089/gtmb.2015.0001

PMID:25961110

Abstract

AIMS

Polymorphisms in DNA damage repair genes may affect DNA repair capacity and modulate breast cancer susceptibility. In this study, we aimed to analyze two polymorphisms for each of the DNA repair genes X-ray repair cross-complementing group 1 (XRCC1) rs25487 and rs1799782 and excision repair cross-complementing group 1 (ERCC1) rs3212964 and rs11615, to evaluate their associations with the risk of sporadic breast cancer in Han women in the Gansu Province of China.

METHODS

Genotypes were determined by a polymerase chain reaction-based approach for 101 patients with breast cancer and in 101 disease-free controls.

RESULTS

We found that individuals with the AA genotype at XRCC1 rs25487 had a significantly increased risk of breast cancer compared with GG genotype (p<0.001, odds ratio [OR]=6.39, 95% confidence interval [CI]: 2.18-18.65). The dominant model showed that the combined rs25487 genotypes (AA+AG) increased the disease risk (p<0.001, OR=3.17, 95% CI: 1.76-5.72). However, no statistical associations were found between rs1799782 in XRCC1, or rs3212964 and rs11615 in ERCC1 and the risk of disease. In haplotype analysis, the GC haplotype in XRCC1 conferred an increased risk (p<0.001) with a 4.78-fold increase for each copy (95% CI: 2.52-8.72). Significant associations were also shown between the single nucleotide polymorphisms (SNPs) and the status of estrogen receptor (ER), progesterone receptor (PR), and HER-2.

CONCLUSIONS

The results suggest that the XRCC1 rs25487 polymorphism may increase the risk of breast cancer.

摘要

目的

DNA损伤修复基因中的多态性可能影响DNA修复能力并调节乳腺癌易感性。在本研究中，我们旨在分析DNA修复基因X射线修复交叉互补基因1（XRCC1）的rs25487和rs1799782以及切除修复交叉互补基因1（ERCC1）的rs3212964和rs11615的两个多态性，以评估它们与中国甘肃省汉族女性散发性乳腺癌风险的关联。

方法

采用基于聚合酶链反应的方法对101例乳腺癌患者和101例无病对照进行基因分型。

结果

我们发现，与GG基因型相比，XRCC1 rs25487位点AA基因型个体患乳腺癌的风险显著增加（p<0.001，优势比[OR]=6.39，95%置信区间[CI]：2.18-18.65）。显性模型显示，rs25487联合基因型（AA+AG）增加了疾病风险（p<0.001，OR=3.17，95%CI：1.76-5.72）。然而，未发现XRCC1中的rs1799782或ERCC1中的rs3212964和rs11615与疾病风险之间存在统计学关联。单倍型分析显示，XRCC1中的GC单倍型增加了风险（p<0.001），每增加一个拷贝风险增加4.78倍（95%CI：2.52-8.72）。单核苷酸多态性（SNP）与雌激素受体（ER）、孕激素受体（PR）和HER-2状态之间也存在显著关联。