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目的 研究亚甲基四氢叶酸还原酶 (MTHFR)基因单核苷酸多态与女性乳腺癌风险的关系。方法 以聚合酶链反应 (PCR)和限制性片段长度多态性 (RFLP)分析方法 ,检测了 2 17例乳腺癌患者和 2 18例配对的正常对照者MTHFR基因C6 77T和A12 98C基因型 ,并比较不同基因型与乳腺癌风险的关系。结果 6 77TT基因型频率在乳腺癌患者和正常对照中的分布差异有显著性 (32 .7%比2 4 .8% ,P =0 .0 2 )。携带MTHFR 6 77TT基因型者与携带MTHFR 6 77CC基因型者比较 ,前者罹患乳腺癌的风险增加 1.84倍 (95 %CI:1.0 9～ 3.14 )。MTHFR 6 77CT基因型以及MTHFRA12 98C多态与乳腺癌风险不相关。结论 MTHFR基因 6 77CT突变是女性乳腺癌的遗传易感因素。
Objective To investigate the relationship between single nucleotide polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and the risk of female breast cancer. Methods The genotypes of MTHFR gene C677T and A1298C in 217 breast cancer patients and 2 18 matched normal controls were detected by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) And to compare the different genotypes and breast cancer risk. Results The distribution of 77TT genotype frequencies in breast cancer patients and normal controls was significantly different (32.7% vs 24.8%, P = .02). Patients with MTHFR 6 77TT genotype had a 1.84-fold (95% CI: 1.09 to 3.14) increased risk of developing breast cancer compared with MTHFR 6 77CC genotype. MTHFR 6 77CT genotype and MTHFRA12 98C polymorphism are not associated with breast cancer risk. Conclusion MTHFR gene 677CT mutation is a predisposing factor for female breast cancer.