title: Prevalence of methylenetetrahydrofolate reductase polymorphisms in young patients with inflammatory bowel disease.
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.
authors.affiliation: Department of Biomedical Sciences, University of Trieste, Trieste, Italy. stoccog@units.it
authors.forename: Gabriele
authors.initials: G
authors.lastname: Stocco
authors.forename: Stefano
authors.initials: S
authors.lastname: Martelossi
authors.forename: Franca
authors.initials: F
authors.lastname: Sartor
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Toffoli
authors.forename: Paolo
authors.initials: P
authors.lastname: Lionetti
authors.forename: Arrigo
authors.initials: A
authors.lastname: Barabino
authors.forename: Massimo
authors.initials: M
authors.lastname: Fontana
authors.forename: Giuliana
authors.initials: G
authors.lastname: Decorti
authors.forename: Fiora
authors.initials: F
authors.lastname: Bartoli
authors.forename: Tullio
authors.initials: T
authors.lastname: Giraldi
authors.forename: Alessandro
authors.initials: A
authors.lastname: Ventura
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D016001:Confidence Intervals; D005260:Female; D005786:Gene Expression Regulation; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007166:Immunosuppressive Agents / Q000009:adverse effects* / Q000627:therapeutic use; D015212:Inflammatory Bowel Diseases / Q000188:drug therapy* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D020714:Maximum Tolerated Dose; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D016017:Odds Ratio; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic; D015995:Prevalence; D011336:Probability; D012016:Reference Values; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D012720:Severity of Illness Index
chemical_list: D005819:Genetic Markers; D007166:Immunosuppressive Agents; D042965:Methylenetetrahydrofolate Reductase (NADPH2)