Alacam State Hospital, General Surgery Clinics, Samsun, Turkey.
Oncol Res Treat. 2016;39(9):534-8. doi: 10.1159/000448084. Epub 2016 Aug 18.
Breast cancer is the most common cancer among women. 1 in every 8 women in the United States have a lifetime risk of getting breast cancer. MTHFR is a key enzyme that regulates the folate metabolism which has an important role in DNA synthesis, repair, and methylation. The aim of the current study was to analyze the association between the MTHFR gene C677T (Ala222Val, rs1801133) polymorphism and breast cancer.
199 breast cancer patients and 195 healthy controls were included in this study. The MTHFR gene C677T polymorphism was analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) methods. A meta-analysis including 707 breast cancer patients and 880 controls from Turkish populations was also carried out. Statistical analyses were performed using the χ2 test.
No statistically significant differences in allele and genotype frequencies were observed between patients and controls (p > 0.05). Although not statistically significant, TT homozygous variants were encountered more frequently in patients than in controls. A statistically significant association was observed between the MTHFR gene C677T polymorphism and the tumor histology of breast cancer patients (p = 0.038). The results of the meta-analysis suggested that there was a high association between breast cancer and the MTHFR gene C677T polymorphism in Turkish populations (p < 0.0001).
In our study, we did not find any association between the MTHFR gene C677T polymorphism and breast cancer. However, a meta-analysis of the 6 association studies carried out in Turkish populations with 707 patients and 880 controls showed a significant association between breast cancer and the MTHFR gene C677T polymorphism.
乳腺癌是女性中最常见的癌症。每 8 名美国女性中就有 1 人终生有患乳腺癌的风险。MTHFR 是一种关键酶，它调节叶酸代谢，在 DNA 合成、修复和甲基化中起着重要作用。本研究旨在分析 MTHFR 基因 C677T（Ala222Val，rs1801133）多态性与乳腺癌之间的关联。
本研究纳入了 199 名乳腺癌患者和 195 名健康对照者。采用聚合酶链反应限制性片段长度多态性（PCR-RFLP）方法分析 MTHFR 基因 C677T 多态性。还对来自土耳其人群的 707 名乳腺癌患者和 880 名对照者进行了 Meta 分析。采用 χ2 检验进行统计学分析。
患者和对照组之间等位基因和基因型频率无统计学差异（p>0.05）。尽管无统计学意义，但 TT 纯合变体在患者中比在对照组中更常见。MTHFR 基因 C677T 多态性与乳腺癌患者的肿瘤组织学之间存在统计学显著关联（p=0.038）。Meta 分析的结果表明，在土耳其人群中，乳腺癌与 MTHFR 基因 C677T 多态性之间存在高度关联（p<0.0001）。
在本研究中，我们未发现 MTHFR 基因 C677T 多态性与乳腺癌之间存在关联。然而，对来自土耳其人群的 6 项关联研究进行的 Meta 分析显示，乳腺癌与 MTHFR 基因 C677T 多态性之间存在显著关联，共纳入了 707 名患者和 880 名对照者。
