IL-6基因启动子多态性与乳腺癌风险的关联性

Association between polymorphisms of interleukin-6 gene promoter and breast cancer

目的:探讨白介素-6(IL-6)基因启动子区-597G/A(rs1800797)、-572C/G(rs1800796)和-174G/C(rs1800795)三个单核苷酸多态性位点(SNP)和乳腺癌易感性的关联性。方法:按照诊断标准,入组女性乳腺癌患者176例及年龄、体重指数等相匹配的健康女性200例。提取外周静脉血DNA,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术检测IL-6基因启动子区-597G/A、-572C/G和-174 G/C三个SNPs位点的基因型。利用SPSS11.5软件进行χ2检验,比较乳腺癌患者各位点基因型、等位基因频率与健康女性之间的差异,分析各位点多态性与乳腺癌发病风险的关联性。结果:IL-6基因-572C/G位点的基因型及等位基因频率分布在乳腺癌组与健康组之间存在显著性差异(P<0.05),乳腺癌组-572C/G位点的等位基因G频率显著高于健康组(χ2=15.438,P<0.0001,OR=2.017,95%CI=1.417～2.870)。结论:IL-6基因-572C/G位点多态性与乳腺癌易感性相关联,携带有-572G/C多态性位点G等位基因的女性罹患乳腺癌的风险要高于非携带女性。

AIM： To study possible association between three single nucleotide polymorphisms （ - 597G/A, - 572C/ G and - 174G/C） of interleukin-6 （IL-6） gene promoter and breast cancer. METHODS： Genomic DNA was isolated from the venous blood leukocytes from 176 unrelated patients with breast cancer and 200 healthy unrelated females （control group）. Polymorphisms of - 597G/A, - 572C/G and -174G/C, were genotyped by PCR-restriction fragment length polymorphisms （PCR-RFLP）. SPSS 11.5 software was employed for statistical analysis and the association of IL-6 polymorphisms with breast cancer was evaluated by X2 test. RESULTS： There was significant differences in both allele and genotype frequencies of -572C/G in case group compared with control group. The allele G of -572C/ G was significantly higher in cancer patients than the controls（x2 = 15. 438, P 〈0.01 ）. CONCLUSION： There is an association between -572C/G polymorphism and breast cancer risk. The females with G allele of -572C/G are susceptible to breast cancer compared with non-carrying females.