Prevalence of methylenetetrahydrofolate reductase polymorphisms in young patients with inflammatory bowel disease

Gabriele Stocco, Stefano Martelossi, Franca Sartor, Giuseppe Toffoli, Paolo Lionetti, Arrigo Barabino, Massimo Fontana, Giuliana Decorti, Fiora Bartoli, Tullio Giraldi, Alessandro Ventura

Research output: Contribution to journalArticlepeer-review

Abstract

Inflammatory bowel disease (IBD) has been related to mutations of methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in the metabolism of folate and methionine, both of which are important factors in DNA methylation and synthesis. A mutated MTHFR genotype was associated with increased toxicity of methotrexate treatment. The objective of this study was to verify, in a population of young patients with IBD, the presence of an association among mutations in the MTHFR gene, the incidence of IBD, and the risk of adverse events during the treatment with thiopurines azathioprine (AZA) or 6-mercaptopurine (6MP). Ninety-two patients with IBD were enrolled; 63 were treated with thiopurines; patients and 130 controls were genotyped for MTHFR mutations by PCR-based methods. The incidence of mutations in the MTHFR gene was not different between patients with IBD and control subjects; the mutated genotype was not associated with an increased risk of toxicity during thiopurine treatment.

Original languageEnglish
Pages (from-to)474-479
Number of pages6
JournalDigestive Diseases and Sciences
Volume51
Issue number3
DOIs
Publication statusPublished - Mar 2006

Keywords

  • Genetic polymorphism
  • Inflammatory bowel disease
  • Methylenetetrahydrofolate reductase
  • Thiopurines

ASJC Scopus subject areas

  • Gastroenterology

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