Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Mol Med Rep. 2011 Jan-Feb;4(1):175-9. doi: 10.3892/mmr.2010.406. Epub 2010 Nov 30.
Published data on the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and breast cancer risk are inconclusive. We investigated the independent and the combined effects of two commonly occurring polymorphisms, MTHFR 677C>T (rs1801133) and MTHFR 1298A>C (rs1801131), as well as their interaction with the use of hormone replacement therapy (HRT), to determine their potential contribution to breast cancer risk. We studied 530 breast cancer cases and 270 controls of the same age and ethnicity participating in a case-control study of postmenopausal women. The duration of HRT use was ascertained through a postal questionnaire. Genotyping was conducted by TaqMan® allelic discrimination. Adjusted odds ratios and 95% confidence intervals were calculated using logistic regression. No significant association was observed between either the individual or the combined MTHFR genotypes and the risk of postmenopausal breast cancer. Additionally, no effects resulting from the interaction between MTHFR genotypes and HRT use were detected. Therefore, our data do not support the hypothesis that genetic variation in the MTHFR gene is implicated in the aetiology of postmenopausal breast cancer.
关于亚甲基四氢叶酸还原酶（MTHFR）基因多态性与乳腺癌风险之间的关联，已有研究结果并不一致。本研究旨在调查两种常见的多态性（MTHFR 677C>T（rs1801133）和 MTHFR 1298A>C（rs1801131））的独立和联合作用，以及它们与激素替代疗法（HRT）使用之间的相互作用，以确定它们对乳腺癌风险的潜在贡献。我们研究了 530 例绝经后妇女病例对照研究中的乳腺癌病例和 270 例年龄和种族相同的对照者。通过邮寄问卷确定 HRT 使用的持续时间。采用 TaqMan®等位基因鉴别法进行基因分型。使用逻辑回归计算调整后的优势比和 95%置信区间。单独或联合 MTHFR 基因型与绝经后乳腺癌风险之间均无显著相关性。此外，MTHFR 基因型与 HRT 使用之间的相互作用也未产生影响。因此，我们的数据不支持 MTHFR 基因遗传变异与绝经后乳腺癌发病机制相关的假设。
