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Genetic variations in MTHFR and esophageal squamous cell carcinoma susceptibility in Chinese Han population

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Abstract

Esophageal cancer is the sixth most common cancer worldwide. Esophageal squamous cell carcinoma (ESCC) is a fatal malignancy associated with low 5-year survival rate. The aim of this study was to assess the association between methylenetetrahydrofolate reductase (MTHFR) tagging single nucleotide polymorphisms (SNPs) rs1801133 C>T, rs3753584 A>G, rs4845882 G>A, rs4846048 A>G and rs9651118 T>C genotypes and ESCC susceptibility in a hospital-based case–control study. We conducted genotyping analyses for these five SNPs with 629 ESCC cases and 686 controls in a Chinese Han population. Ligation detection reaction method was used to identify genotypes of these MTHFR SNPs. Our results demonstrated that MTHFR rs1801133 C>T was associated with the risk of ESCC; however, MTHFR rs4845882 G>A and rs4846048 A>G SNPs were associated with the decreased risk of ESCC, and MTHFR rs3753584 A>G and rs9651118 T>C SNPs were not associated with ESCC risk. Our findings suggests that MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC in Chinese Han population.

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Abbreviations

CI:

Confidence interval

OR:

Odds ratio

MTHFR :

Methylenetetrahydrofolate reductase

HWE:

Hardy–Weinberg equilibrium

ESCC:

Esophageal squamous cell carcinoma

PCR-LDR:

Polymerase chain reaction–ligase detection reaction

SNP:

Single nucleotide polymorphism

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Acknowledgements

We appreciate all patients who participated in this study. We wish to thank Dr. Yiqun Chen (Biowing Applied Biotechnology Company, Shanghai, China) for technical support. This study was supported by fund of Affiliated People’s Hospital of Jiangsu University (Y200913), Jiangsu University Clinical medicine science and technology development fund (JLY20120004), National Natural Science Foundation of China (81370001, 81101889, 81000028) and Jiangsu Province Natural Science Foundation (BK2010333, BK2011481).

Conflict of interest

None.

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Authors and Affiliations

  1. Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, 212000, China

    Weifeng Tang, Bin Sun, Jun Yin & Haiyong Gu

  2. Department of General Surgery, Changzhou No. 3 People’s Hospital, Changzhou, 213000, China

    Sheng Zhang

  3. Department of Microbiology and Immunology, Medical School of Southeast University, Nanjing, 210008, China

    Hao Qiu & Lixin Wang

Authors
  1. Weifeng Tang
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  2. Sheng Zhang
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  3. Hao Qiu
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  4. Lixin Wang
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  5. Bin Sun
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  6. Jun Yin
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  7. Haiyong Gu
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Corresponding authors

Correspondence to Jun Yin or Haiyong Gu.

Additional information

Weifeng Tang and Sheng Zhang have contributed equally to this study.

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Tang, W., Zhang, S., Qiu, H. et al. Genetic variations in MTHFR and esophageal squamous cell carcinoma susceptibility in Chinese Han population. Med Oncol 31, 915 (2014). https://doi.org/10.1007/s12032-014-0915-6

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  • DOI: https://doi.org/10.1007/s12032-014-0915-6

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