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甘肃汉族妇女XRCC1和CCNH基因多态性与乳腺癌及乳腺良性肿瘤易感性研究

王  兰1,朱公建1,闵建平1,郭红云1,杨碎胜2,张斌明2,胡清荣1,杨  凯1,陈学忠2,苏海翔1,*   

  1. 甘肃省医学科学研究院转化医学研究中心,甘肃  兰州  730050
  • 收稿日期:2013-11-04 修回日期:2184-02-12 出版日期:2014-07-30 发布日期:2014-07-30
  • 通讯作者: 苏海翔,E-mail:haixiang01@yahoo.com
  • 作者简介:王 兰(1971- ),女,高级实验师,研究方向:分子生物学。E-mail:wala6535@163.com
  • 基金资助:

    甘肃省科技厅支撑项目(1011FKCA089),甘肃省卫生行业计划项目(GSWST2010-08)

The relevance of XRCC1 and CCNH gene polymorphism to breast cancer and benign breast tumor in Han women of Gansu province

WANG Lan1,ZHU Gong-jian1,MIN Jian-ping1,GUO Hong-yun1,YANG Sui-sheng2, ZHANG Bin-ming2,HU Qing-rong1,YANG Kai1,CHEN Xue-zhong2,SU Hai-xiang1,*   

  1. Center of Translational Medicine Research, Gansu Provincial Academy of Medical Sciences, Lanzhou 730050
  • Received:2013-11-04 Revised:2184-02-12 Online:2014-07-30 Published:2014-07-30

摘要:

目的: 研究甘肃地区汉族妇女XRCC1 rs25487、CCNH rs2234942基因多态性与乳腺癌及乳腺良性肿瘤发病的相关性。方法:选取经病理组织学确诊的乳腺癌、乳腺良性肿瘤各101例,匹配相同数量健康人作对照。使用聚合酶链式反应-限制性片段长度多态分析技术(PCR-RFLP)对XRCC1、CCNH进行基因型分析,通过Logistic回归分析不同基因型和临床病理特征与乳腺癌发病的风险性关系,通过χ2检验比较两种基因位点不同基因型的初潮年龄、发病年龄与乳腺癌和乳腺良性肿瘤的相关性。结果:Logistic回归分析发现XRCC1 rs25487位点GG基因型携带者的妇女罹患乳腺癌的危险性增加(P=0.001, OR=6.39, 95%CI: 2.18~ 18.65);临床病理免疫组化分析显示,XRCC1基因 rs25487位点携带AA/AG基因型者,在PR+与PR-乳腺癌组织间的分布差异有显著性(P=0.04,OR=0.29);携带AG/GG基因型者,在Her-2+与Her-2-乳腺癌组织间的分布差异有显著性(P=0.008, OR=0.45)。χ2检验显示,乳腺癌和乳腺良性肿瘤患者XRCC1 rs25487位点GG/AG基因型携带者的初潮年龄差异有显著性(P=0.001、0.043);乳腺癌和乳腺良性肿瘤患者CCNH rs2234942位点GG基因型携带者的初潮年龄差异有显著性(P=0.049);乳腺癌和乳腺良性肿瘤患者XRCC1 rs25487和CCNH rs2234942位点GG基因型携带者,发病年龄差异有显著性(P=0.019、0.048)。结论:XRCC1 rs25487 GG基因型将会增加乳腺癌的发病风险,XRCC1 rs25487位点携带AA/AG基因型者,在PR+时乳腺癌的发病风险下降;携带AG/GG基因型者,在Her-2+时可能降低乳腺癌的发病风险。

关键词: XRCC1, CCNH, 基因多态性, 乳腺癌

Abstract:

OBJECTIVE: To study the association between XRCC1 rs25487 and CCNH rs2234942 polymorphism with the susceptibility to breast cancer and benign breast tumor in Han women in Gansu area. METHODS:Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay was used for the polymorphism of XRCC1,CCNH in 101 cases of breast cancer,101 benign breast tumors and 101 disease-free controls collected in Gansu. Logistic regression analysis was used for comparing the genotypes or clinical pathological characteristics with the risk of breast cancer. Chi-square test was used to compare menarche age and disease onset age with the risk of breast cancer or benign tumor. RESULTS:Logistic regression analysis  showed that XRCC1 rs25487,GG genotype increased the risk of breast cancer (P=0.001,OR=6.39,95%CI:2.18-18.65). Regarding the clinicopathological immunohistochemical characteristics,the distribution of AA/AG genotype was significantly different between PR+ and PR- at XRCC1 rs25487(P=0.04,OR=0.29),while the distribution of AG/GG genotype was significantly different in Her-2+ cases and Her-2- (P=0.008,OR=0.45). Chi-square test found that the menarche age of GG/AG genotype in XRCC1 rs25487 and GG genotype in CCNH rs2234942 was significantly different in breast cancer and benign tumor (P= 0.001, 0.043,0.049). The disease onset age of GG genotype in both XRCC1 rs25487 and CCNH rs2234942 was significantly different in breast cancer and benign tumor(P=0.019,0.048). CONCLUSION: GG genotype in XRCC1 rs25487 increased the risk of breast cancer. AA/AG genotype in XRCC1 rs25487 with PR+ and AG/GG genotype in CCNH rs2234942 with Her-2+ reduced the risk of breast cancer.

Key words: RCC1, CCNH, SNPs, breast cancer