Allelotype frequency of the thiopurine methyltransferase (TPMT) gene in Japanese

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 GMP map provide clinically useful information, Pharmacogenetics 11:275-278 (C) 2001 Lippincott Williams & Wilkins.