Pharmacogenetics · 2001 · 107 citations · 13 references
Veterinary MedicineGeneticsMolecular GeneticsHuman GeneticsPharmacogeneticsPharmacogenomicsDrug Metabolism GeneticsGenetic DisordersPharmacogenetic EpidemiologyPharmacogenetic TestingPopulation PharmacogeneticsPopulation PharmacogenomicsAllele FrequencyAzathioprine PharmacogeneticsMutationThiopurine MetabolismThiopurine S-methyltransferase PolymorphismTpmt GenotypeTpmt GenotypingVariant Allele Frequency Analysis
Polymorphisms at three loci in the thiopurine methyltransferase (TPMT) gene are known to be responsible for azathioprine and 6-mercaptopurine (6MP) toxicity. Among them, only TPMT*3C variant allele with A719G mutation was found in 15/522 (2.9%; 17/1044 alleles; 1.6%) Japanese individuals including two homozygotes. The allele frequency was different from that in Caucasians, and investigation of TPMT polymorphisms with consideration of ethnic differences before administration of azathioprine or 6MP may provide clinically useful information.
13