Abstract:
To evaluate the correlation between the methylene tetrahydrofolate reductase (MTHFR) mononucleotide polymorphism and risk of onset for carcinoma of the esophagus and gastric cardia. Methods: The polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assay was used to analyze the MTHFR C677T polymorphism in 584 cases with esophageal squamous cell carcinomas (ESCC), 467 with adenocarcinoma of gastric cardia (AGC) and 540 age-and sex- matched normal controls. Results: In the normal controls, the frequency of the MTHFR 677C/C, C/T and T/T genotypes was 22.1%, 43.3% and 34.6%, respectively, while in the ESCC group, the frequency was 12.5%, 45.0% and 42.5%, respectively (P=0.000). In the AGC group, the frequency of the C/C, C/T and T/T genotypes was 15.8%, 43.5% and 40.7%, respectively (P=0.024). Multiplicity analysis showed that individuals with the MTHFR 677TT and 677CT genotypes had a significantly higher risk for developing ESCC (OR=2.36, OR=1.76) and GCA (OR=1.34, OR=1.23) compared to the 677CC genotypes. Conclusion: The MTHFR mononucleotide polymorphism can be used to assess risk for hereditary susceptibility to carcinoma of the esophagus and gastric cardia in the high risk area of esophageal carcinoma.