Tumor Biology

, Volume 36, Issue 5, pp 3757–3762 | Cite as

Polymorphisms in the MTHFR gene are associated with breast cancer risk and prognosis in a Chinese population

  • Qing Lu
  • Ke Jiang
  • Qiong Li
  • Ya-Jie Ji
  • Wei-Li Chen
  • Xiao-Hong Xue
Research Article

Abstract

Breast cancer is the most common cancer affecting women in China and the world. Folate supplementation is proven to be effective in reducing the risk of breast cancer or improving its prognosis. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism and DNA synthesis. This study aims to examine whether single nucleotide polymorphisms (SNP) in the MTHFR gene are associated with risk and survival of breast cancer and serum folate levels in healthy controls. We genotyped nine tagging SNPs in the MTHFR gene in a case–control study, including 560 breast cancer cases and 560 healthy controls in China. We found that TT genotype of rs1801133 had significant increased risk of breast cancer [adjusted odds ratio (OR) = 1.60, 95 % confidence interval (CI) 1.12–2.28] compared with CC genotype, and CC genotype of rs9651118 conferred significant reduced risk of breast cancer (adjusted OR = 0.65, 95 % CI 0.45–0.95) compared to TT genotype. Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58–0.86; adjusted OR = 0.57, 95 % CI 0.40–0.80) compared with CATTAA haplotype. Besides, MTHFR rs9651118 CC genotype was significantly associated with survival in breast cancer cases (adjusted hazard ratio (HR) = 0.63, 95 % CI 0.40–0.99). But none of the SNPs in the MTHFR gene was associated with serum folate level in healthy controls. These findings suggest that variants in the MTHFR gene may influence the risk and prognosis of breast cancer.

Keywords

Folate Tagging SNP Haplotype Biomarker Susceptibility Survival 

Notes

Acknowledgments

This study was supported by the third specialist construction Program of Shanghai Clinical Chinese Medicine (ZYSNXD-YL-YSZK009).

Conflicts of interest

None

Supplementary material

13277_2014_3016_MOESM1_ESM.docx (14 kb)
Supplementary Table 1 (DOCX 14 kb)

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Copyright information

© International Society of Oncology and BioMarkers (ISOBM) 2015

Authors and Affiliations

  • Qing Lu
    • 1
  • Ke Jiang
    • 1
  • Qiong Li
    • 1
  • Ya-Jie Ji
    • 1
  • Wei-Li Chen
    • 1
  • Xiao-Hong Xue
    • 1
  1. 1.Department of Breast Surgery, Yueyang Hospital of Integrated Chinese and Western MedicineShanghai University of Traditional Chinese MedicineShanghaiChina

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