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目的::研究亚甲基四氢叶酸还原酶(MTHFR)基因单核苷酸多态性与乳腺癌易感性的关系。方法:采用以人群为基础的病例对照研究方法,聚合酶链反应-限制性片段长度多态性法检测MTHFR基因型在东北地区乳腺癌患者和正常人群中的分布。结果:MTHFR基因677位点在乳腺癌组和对照组中等位基因频率及基因型分布有显著差异性(P<0.05)。进一步分析表明,纯合突变G/G基因型、杂合突变C/G基因型与野生C/C基因型相比,患乳腺癌的危险度分别提高了2.23倍和2.00倍。结论:MTHFR基因C677T突变基因型与乳腺癌的易感性有关。
AIM: To study the relationship between single nucleotide polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene and breast cancer susceptibility. Methods: A population-based case-control study was conducted to determine the distribution of MTHFR genotypes in breast cancer patients and normal controls in Northeast China by polymerase chain reaction-restriction fragment length polymorphism. Results: There was a significant difference in allele frequencies and genotypes between MTHFR gene 677 and breast cancer (P <0.05). Further analysis showed that the homozygous mutant G / G genotype, heterozygous mutant C / G genotype compared with the wild C / C genotype, the risk of breast cancer increased by 2.23 times and 2.00 times. Conclusion: The C677T mutation genotype of MTHFR gene is associated with the susceptibility of breast cancer.