Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase)

AM Marinaki, A Ansari, JA Duley… - Pharmacogenetics …, 2004 - journals.lww.com
Adverse drug reactions to azathioprine (AZA), the pro-drug of 6-mercaptopurine (6-MP),
occur in 15% to 28% of patients and the majority are not explained by thiopurine
methyltransferase (TPMT) deficiency. Inosine triphosphate pyrophosphatase (ITPase)
deficiency results in the benign accumulation of the inosine nucleotide ITP. 6-MP is activated
through a 6-thio-IMP intermediate and, in ITPase deficient patients, potentially toxic 6-thio-
ITP is predicted to accumulate. The association between polymorphism in the ITPA gene …