Research Papers:

Investigation of methylenetetrahydrofolate reductase tagging polymorphisms with colorectal cancer in Chinese Han population

Sheng Zhang, Shuchen Chen, Yu Chen, Mingqiang Kang, Chao Liu, Hao Qiu, Yafeng Wang and Weifeng Tang _

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Oncotarget. 2017; 8:63518-63527. https://doi.org/10.18632/oncotarget.18845

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Sheng Zhang1,*, Shuchen Chen2,*, Yu Chen3,4,*, Mingqiang Kang2, Chao Liu5, Hao Qiu6, Yafeng Wang7 and Weifeng Tang2,5

1Department of General Surgery, Changzhou No. 3 People’s Hospital, Changzhou, Jiangsu Province, China

2Department of Thoracic Surgery, Affiliated Union Hospital of Fujian Medical University, Fuzhou, Fujian Province, China

3Department of Medical Oncology, Fujian Provincial Cancer Hospital, Fujian Medical University Cancer Hospital, Fuzhou, Fujian Province, China

4Fujian Provincial Key Laboratory of Translational Cancer Medicine, Fuzhou, Fujian Province, China

5Department of Cardiothoracic Surgery, Affiliated People’s Hospital of Jiangsu University, Zhenjiang, Jiangsu Province, China

6Department of Immunology, School of Medicine, Jiangsu University, Zhenjiang, Jiangsu Province, China

7Department of Cardiology, The People's Hospital of Xishuangbanna Dai Autonomous Prefecture, Jinghong, Yunnan Province, China

*These authors have contributed equally to this work

Correspondence to:

Weifeng Tang, email: [email protected]

Yafeng Wang, email: [email protected]

Keywords: polymorphism, MTHFR, colorectal cancer, tagging, susceptibility

Received: January 27, 2017     Accepted: June 04, 2017     Published: June 29, 2017


The aim of this case-control study was to assess the relationship between the tagging polymorphisms in methylenetetrahydrofolate reductase (MTHFR) gene and the susceptibility to colorectal cancer (CRC) in a Chinese Han population. A custom-by-design 48-Plex SNPscan Kit was used to determine the genotypes of MTHFR rs3753584 T>C, rs9651118 T>C, rs1801133 G>A, rs4846048 A>G and rs4845882 G>A polymorphisms in 387 CRC patients and 1,536 non-cancer controls. The results revealed that MTHFR rs1801133 G>A polymorphism was associated with a decreased risk of overall CRC. While MTHFR rs4845882 G>A polymorphism conferred an increased risk to overall CRC. In a stratified analysis by CRC region, we found MTHFR rs3753584 T>C and rs9651118 T>C polymorphisms were associated with the increased risk of colon cancer. In addition, a significantly increased risk of rectum cancer associated with MTHFR rs3753584 T>C polymorphism was overt. However, MTHFR rs1801133 G>A polymorphism conferred a decreased risk to colon cancer. In conclusion, findings of the present study reveal that the tagging polymorphisms in MTHFR gene (rs3753584 T>C, rs9651118 T>C and rs4845882 G>A) are associated with the increased risk of CRC. However, MTHFR rs1801133 G>A polymorphism confers a decreased risk to CRC. Additional studies with larger sample size are needed to confirm these findings.

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