MTHFR polymorphisms involved in vitamin B12 deficiency associated with atrophic gastritis

Michele Palladino, Patrizia Chiusolo, Giovanni Reddiconto, Sara Marietti, Daniela Giovanna De Ritis, Giuseppe Leone, Simona Sica

Risultato della ricerca: Contributo in rivistaArticolo in rivista

5 Citazioni (Scopus)


Genetic polymorphisms affecting methylentetrahydrofolate reductase (MTHFR) activity may influence hematological and neurological dysfunction in cobalamin-deficient patients. We studied the prevalence of C677T and A1298C polymorphisms by analyzing genomic DNA in 30 cobalamin-deficient patients. No significant difference was found in 677 and 1298 genotype distribution with respect to hematological parameters, B12 and folate levels, and neurological symptoms. The two MTHFR polymorphisms were not protective against anemia or neurological dysfunction in patients with cobalamin deficiency; however, we found evidence of a significant increase in atrophic gastritis in the 677TT group (P = 0.009) but not for the 1298CC genotype. Based on observations that inadequate cobalamin intake and reduced MTHFR activity might be significant risk factors for gastric cancer, and the increased risk of gastric cancer shown in patients affected by atrophic gastritis, we speculate that concomitant atrophic gastritis and impaired MTHFR function could have a role in the development of gastric cancer.
Lingua originaleEnglish
pagine (da-a)645-650
Numero di pagine6
RivistaBiochemical Genetics
Stato di pubblicazionePubblicato - 2009


  • Adult
  • Aged
  • Aged, 80 and over
  • Anemia
  • Female
  • Gastritis, Atrophic
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Middle Aged
  • Mutation
  • Nervous System Diseases
  • Polymorphism, Genetic
  • Vitamin B 12 Deficiency


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