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目的探讨DNA甲基化酶(DNMT)3b基因单核苷酸多态性(SNPs)与乳腺癌易感性的关系。方法采用直接测序法检测157例女性乳腺癌患者(疾病组)和同期162例健康女性(对照组)DNMT3b基因rs6119954、rs4911107、rs4911259和rs2424913位点多态性分布情况,采用比值比(OR)及95%可信区间(CI)表示DNMT3b多态性与乳腺癌易感性的关系,同时分析以上位点多态性与临床病理参数(年龄、肿瘤大小、侧别、TNM分期、淋巴结转移、绝经状态、乳腺良性病史及HER-2表达)的关系。结果疾病组和对照组rs6119954、rs4911107、rs4911259和rs2424913位点多态性基因型分布符合Hardy-Weinberg遗传平衡。两组DNMT3b rs4911107和rs4911259基因型分布无统计学差异(P<0.05);两组DNMT3b rs6119954位点的GG、GA和AA型分布频率及DNMT3b rs2424913位点的TT、CT和CC型分布频率均有统计学意义(P<0.05)。DNMT3b rs4911107和rs4911259位点各基因型及等位基因分布与乳腺癌发病风险无关(P>0.05)。DNMT3b rs6119954、rs2424913位点上,携带突变等位基因者的乳腺癌风险升高,均有统计学意义(P<0.05)。DNMT3b rs6119954基因型分布与肿瘤大小、TNM分期及淋巴结转移有关,而DNMT3b rs2424913基因型分布与TNM分期及乳腺良性病史有关(P<0.05)。结论 DNMT3b rs4911107和rs4911259位点多态性与乳腺癌易感性有关,且其突变基因型增加了乳腺癌的发病风险。
Objective To investigate the relationship between DNA methylase (DNMT) 3b gene single nucleotide polymorphisms (SNPs) and breast cancer susceptibility. Methods Direct sequencing was used to detect the distribution of rs6119954, rs4911107, rs4911259 and rs2424913 in 157 cases of breast cancer (disease group) and 162 healthy women (control group). The odds ratio (OR) and 95% confidence interval (CI) indicates the relationship between DNMT3b polymorphism and susceptibility to breast cancer. Meanwhile, the above polymorphism and clinicopathological parameters (age, tumor size, side, TNM stage, lymph node metastasis, , History of benign breast disease and HER-2 expression). Results The genotype distributions of rs6119954, rs4911107, rs4911259 and rs2424913 in disease group and control group were in accordance with Hardy-Weinberg genetic balance. There was no significant difference in genotype distribution of DN49T3b rs4911107 and rs4911259 between the two groups (P <0.05). The frequencies of GG, GA and AA genotypes of DNMT3b rs6119954 and TT, CT and CC genotype frequencies of DNMT3b rs2424913 Statistical significance (P <0.05). The genotype and allele distribution of DN49T3b rs4911107 and rs4911259 sites were not associated with the risk of breast cancer (P> 0.05). The risk of breast cancer in DNMT3b rs6119954 and rs2424913 loci were higher than those in the alleles of DNMT3b (all P <0.05). The distribution of DNMT3b rs6119954 genotype was related to tumor size, TNM stage and lymph node metastasis, while the distribution of DNMT3b rs2424913 genotype was associated with TNM stage and benign breast disease (P <0.05). Conclusion The polymorphisms of rs4911107 and rs4911259 in DNMT3b are associated with the susceptibility to breast cancer, and the mutation genotypes increase the risk of breast cancer.