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Prevalence of Methylenetetrahydrofolate Reductase Polymorphisms in Young Patients with Inflammatory Bowel Disease

  • Inflammatory Bowel Disease
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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.

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Authors and Affiliations

  1. Department of Biomedical Sciences, University of Trieste, Trieste

    Gabriele Stocco, Giuliana Decorti MD, Fiora Bartoli MD & Tullio Giraldi

  2. Research Children’s Hospital “Burlo Garofolo,”, Trieste

    Stefano Martelossi MD & Alessandro Ventura MD

  3. Experimental and Clinical Pharmacology Unit, Division of Experimental Oncology, Centro di Riferimento Oncologico, Aviano, Pordenone

    Franca Sartor & Giuseppe Toffoli MD

  4. Research Children’s Hospital ‘Meyer,’, Florence

    Paolo Lionetti MD

  5. Research Children’s Hospital ‘Gaslini,’, Genoa

    Arrigo Barabino MD

  6. Children’s Hospital ‘Buzzi,’, Milan, Italy

    Massimo Fontana MD

Authors
  1. Gabriele Stocco
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  2. Stefano Martelossi MD
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  3. Franca Sartor
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  4. Giuseppe Toffoli MD
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  5. Paolo Lionetti MD
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  6. Arrigo Barabino MD
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  7. Massimo Fontana MD
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  8. Giuliana Decorti MD
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  9. Fiora Bartoli MD
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  11. Alessandro Ventura MD
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Correspondence to Gabriele Stocco.

Additional information

This research was supported by grants from the Italian Ministry of University and Scientific Research and the Italian Ministry of Health.

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Stocco, G., Martelossi, S., Sartor, F. et al. Prevalence of Methylenetetrahydrofolate Reductase Polymorphisms in Young Patients with Inflammatory Bowel Disease. Dig Dis Sci 51, 474–479 (2006). https://doi.org/10.1007/s10620-006-3158-3

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  • DOI: https://doi.org/10.1007/s10620-006-3158-3

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