MTHFR polymorphisms in gastric cancer and in first-degree relatives of patients with gastric cancer

Valli De Re, R. Cannizzaro, V. Canzonieri, E. Cecchin, L. Caggiari, E. De Mattia, C. Pratesi, P. De Paoli, G. Toffoli

Research output: Contribution to journalArticlepeer-review


Two common mutations, 677 C→T and a1298 A→C, in the methylenetetrahydrofolate reductase gene (MTHFR) reduce the activity of MTHFR and folate metabolism. Familial aggregation in a variable but significant proportion of gastric cancer (GC) cases suggests the importance of genetic predisposition in determining risk. In this study, we evaluate MTHFR polymorphisms in 57 patients with a diagnosis of GC, in 37 with a history of GC in first-degree relatives (GC-relatives), and in 454 blood donors. Helicobacter pylori (HP) infection was also determined. An increased risk was found for 677TT in GC patients with respect to blood donors (odds ratio (OR)=1.98), and statistical significance was sustained when we compared sex-age-matched GC patients and donors (OR=2.37). The 677TT genotype association with GC was found in women (OR=3.10), while a reduction in the 667C allele frequency was present in both the sex. No statistically significant association was detected when 677-1298 genotype was stratified by sex and age. Men of GC-relatives showed a higher 1298C allele frequency than donors (OR=4.38). Between GC and GC-relatives, HP infection frequency was similar. In conclusion, overall findings support the hypothesis that folate plays a role in GC risk. GC-relatives evidence a similar 677TT frequency to that found in the general population.

Original languageEnglish
Pages (from-to)23-32
Number of pages10
JournalTumor Biology
Issue number1
Publication statusPublished - Jan 2010


  • Gastric cancer familiarity
  • Gastric carcinoma
  • Helicobacter pylori
  • Methylenetetrahydrofolate reductase (MTHFR) polymorphism

ASJC Scopus subject areas

  • Cancer Research


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