Hekim Nezih, Ergen Arzu, Yaylim Ilhan, Yilmaz Hülya, Zeybek Umit, Oztürk Oğuz, Isbir Turgay
Dr Pakize I Tarzi Laboratories, Istanbul, Turkey.
Cell Biochem Funct. 2007 Jan-Feb;25(1):115-7. doi: 10.1002/cbf.1274.
Methylenetetrahydrofolate reductase (MTHFR) is an enzyme (EC 1.5.1.20), that reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a carbon donor for the homocysteine to methionine conversion. MTHFR is a key enzyme that regulates folate metabolism which has an important role in DNA synthesis, DNA repair and methylation. The association between MTHFR C677T polymorphism and breast cancer has been investigated in several previous studies. Some researchers have shown an association between C677T polymorphism and breast cancer, but not all researchers found this association however. This study was designed to investigate, in the Turkish population, the association of MTHFR C677T polymorphism and breast cancer. Forty women patients with breast cancer and 68 healthy women were included in the study. MTHFR gene polymorphism was determined by the PCR-RFLP method. SPSS 10.0 for windows was used to determine statistical significance. No differences were observed in the distribution of MTHFR genotypes or allele frequencies in the cases versus the controls. It was found that the frequencies of MTHFR polymorphism were 55%, 40%, 5% for CC, CT, TT genotype in patients and 56%, 38%, 6% in healthy controls respectively. Furthermore, association was observed among family history, metastatic risk and MTHFR genotypes in patients. Our data fail to support a relationship between MTHFR C677T and the risk for breast cancer. It may be that there are ethnic differences in terms of this relationship.
亚甲基四氢叶酸还原酶（MTHFR）是一种酶（EC 1.5.1.20），它将5,10 - 亚甲基四氢叶酸还原为5 - 甲基四氢叶酸，后者是同型半胱氨酸转化为甲硫氨酸的碳供体。MTHFR是调节叶酸代谢的关键酶，叶酸代谢在DNA合成、DNA修复和甲基化中起重要作用。先前已有多项研究探讨了MTHFR C677T多态性与乳腺癌之间的关联。一些研究人员表明C677T多态性与乳腺癌有关，但并非所有研究人员都发现了这种关联。本研究旨在调查土耳其人群中MTHFR C677T多态性与乳腺癌的关联。40例乳腺癌女性患者和68例健康女性纳入研究。采用聚合酶链反应 - 限制性片段长度多态性（PCR - RFLP）方法测定MTHFR基因多态性。使用Windows版SPSS 10.0确定统计学意义。病例组与对照组在MTHFR基因型或等位基因频率分布上未观察到差异。发现患者中CC、CT、TT基因型的MTHFR多态性频率分别为55%、40%、5%，健康对照组分别为56%、38%、6%。此外，在患者中观察到家族史、转移风险与MTHFR基因型之间存在关联。我们的数据不支持MTHFR C677T与乳腺癌风险之间存在关联。在这种关系方面可能存在种族差异。
