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

Abstract

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 customby- 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.