MTHFR and TYMS genotypes influence TPMT activity and its differential modulation in males and females

Clin Biochem. 2010 Jan;43(1-2):37-42. doi: 10.1016/j.clinbiochem.2009.09.003. Epub 2009 Sep 11.

Abstract

Objectives: TPMT catalyzes the deactivation of the cytostatic drug 6-mercaptopurine used in treatment of cancer. Patients with low levels of TPMT more often experience severe toxic effects when treated with standard doses of 6-mercaptopurine than patients with high levels who, in turn, may experience inadequate treatment. It is therefore very important to assess factors that could influence TPMT activity.

Design and methods: Red blood cell TPMT activity was measured by means of HPLC and genotypes of 86 healthy individuals were analyzed using TaqMan and PCR-RFLP methods, in order to investigate the effect of TPMT, MTHFR and TYMS genotypes on TPMT activity.

Results: TPMT activity was higher in TPMT wild-type males than females (p=0.028). Three-way ANOVA interaction analysis revealed a significant interaction effect between MTHFR genotype and gender on TPMT activity (p=0.023).

Conclusion: Males have higher TPMT activity than females and the trend of influence of MTHFR genotype on TPMT activity is different in the two gender groups.

MeSH terms

  • Adolescent
  • Adult
  • Antimetabolites, Antineoplastic / metabolism
  • Antimetabolites, Antineoplastic / therapeutic use
  • Female
  • Folic Acid / metabolism
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Male
  • Mercaptopurine / metabolism
  • Mercaptopurine / therapeutic use
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / metabolism
  • Methyltransferases / genetics
  • Methyltransferases / metabolism*
  • Sex Factors
  • Thymidylate Synthase / genetics*
  • Thymidylate Synthase / metabolism
  • Young Adult

Substances

  • Antimetabolites, Antineoplastic
  • Folic Acid
  • Mercaptopurine
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Methyltransferases
  • Thymidylate Synthase
  • thiopurine methyltransferase