APOBEC3基因拷贝数变异与乳腺癌易感性的关联

Association of the Copy Number Variation of APOBEC3 Gene with the Susceptibility of Breast Cancer

为了探讨APOBEC3基因缺失拷贝数变异的多态性与汉族女性乳腺癌易感性的关联性,本研究应用聚合酶链式反应-限制性多态性内切酶技术检测281例乳腺癌和292例正常对照组。我们发现APOBEC3基因拷贝数变异位点的等位基因、基因型频率分布在乳腺癌和对照组之间比较有显著性差异(p<0.05),校正混杂因素后基因型Del/Del,Del/Ins,显性模型和加性模型下对乳腺癌的风险预测值分别为2.753 (95%Cl:1.363～3.560; p=0.005)、1.462(95%Cl:1.021～2.094; p=0.038)、2.282(95%Cl:1.155～3.508; p=0.018)和1.596(95%Cl:1.129～2.256; p=0.008)。研究表明APOBEC3基因的缺失变异位点多态性与乳腺癌的发病风险存在关联,等位基因del是乳腺癌发病的危险因素。本研究的结果可以为本地区群体的乳腺癌易感基因的筛选以及评估易感基因对患病的风险程度提供参考数据,为乳腺癌的防治、诊断和个体化治疗研究提供了帮助。

To investigate the association of the polymorphisms of deletion copy number variation in the APOBEC3 gene with the susceptibility of breast cancer in females of Han Chinese,in this research,we used PCR-RFLP method to detect 281 cases of breast cancer and 292 cases of normal control group.We found that the allele frequencies and genotype distributions of the deletion variation had significant differences between the two groups(p<0.05).The risk predicted value of the frequencies of del/del,del/ins,dominant model and additive model to breast cancer were 2.753(95% Cl:1.363~3.560;p=0.005),1.462(95% Cl:1.021~2.094;p=0.038),2.282(95% Cl:1.155~3.508;p=0.018)and 1.596(95% Cl:1.129~2.256;p=0.008)after correction,respectively.Studies showed that the polymorphism of APOBEC3 gene deletion variation locus might be related to the risk of breast cancer,and the del allele might be a risk factor for breast cancer.The data of this study would provide reference data for the screening of breast cancer susceptibility gene and the assessment of their risk of breast cancer in the population of this region,and would be also helpful to the prevention,diagnosis and individual treatment ofbreast cancer.