Biochemical Genetics Laboratory, Regional Molecular Genetic Pathology Laboratory, SCPMG Regional Reference Laboratories, USA
Research Article
Comprehensive Evaluation of How TPMT Genotype Influences Thiopurine Treatment
Author(s): Tanya R Yakushi*, Yong Qu, Mike M Moradian and Ruan T Ramjit
Purine analogs, 6-mercaptopurine (6-MP) and the prodrug azathioprine (Aza) are used as immunosuppressants in the treatment of many diseases including cancer, autoimmune disorders and inflammatory diseases ofthe digestive tract. Treatment with thiopurines is complicated by the high variability in response observed in a patient population. The need to titrate treatment to adequate therapeutic levels is exacerbated by the cytotoxicity that can result from overdosing patients. In this comprehensive study, we evaluated the response of 946 individuals, with known thiopurine S-methyltransferase (TPMT) genotypes, to treatment with 6-MP and Aza. We determined the allelic frequencies of the most common TPMT alleles in a diverse cohort of individuals. The TPMT*1/TPMT*1 genotype was found to occur in 92.1% of the patient population, while the TPMT*1/TPMT*3A, TPMT*1/ TPMT*3C, and TPMT*1/TPMT*2 gen.. View More»
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