APOBEC3基因多态性与乳腺癌易感性的关联研究

Association between APOBEC3 genetic polymorphism and susceptibility of breast cancer

目的探讨APOBEC3基因多态性与汉族女性乳腺癌易感性的关联性。方法应用PCR-限制性多态性内切酶技术检测282例乳腺癌患者和302例体检者的APOBEC3A基因单核苷酸多态性(SNP)位点:rs5757402、rs17370615和rs12157810,以及APOBEC3B基因的拷贝数变异(CNV)位点。结果 rs17370615和CNV位点的等位基因频率分布在两组间比较差异有统计学意义(P<0.05),rs17370615位点的GA基因型、CNV位点Ins/Del和Del/Del基因型的频率分布在两组间比较差异有统计学意义(P<0.05),风险值分别为1.457(1.116,1.902),2.927(1.478,5.796)和1.629(1.156,2.297)。结论 APOBEC3基因的rs17370615和CNV位点的多态性与乳腺癌的发病风险存在关联。

Objective To investigate the association between APOBEC3 genetic polymorphism and breast cancer susceptibility in females of Han Chinese.Methods We used PCR-restriction fragment length polymorphism(RFLP)method to detect the polymorphisms of 3 single nucleotide polymorphism(SNP):rs5757402,rs17370615,rs12157810,and the deletion copy number variation(CNV)locus in 282 patients with breast cancer and 302 cancer-free people.Results We found that the allele frequencies distributions of rs17370615 and CNV locus had significant differences between the two groups(P<0.05).Also,the frequencies distributions in GA in rs17370615,Ins/Del and Del/Del genotype CNV locus had significant differences between the two groups(P<0.05),the value-at-risk was 1.457(1.116,1.902),2.927(1.478,5.796)and 1.629(1.156,2.297).Conclusion Polymorphisms of rs17370615 and CNV locus might be related to the risk of breast cancer.