Pacsin2 Rs2413739 Polymorphism And Thiopurine Pharmacokinetics: Validation Studies In Pediatric Patients

Thiopurines such as thioguanine (TG), mercaptopurine (MP) and its prodrug azathioprine (AZA) are key antileukemic and immunosuppressive drugs in the treatment of several pediatric diseases such as acute lymphoblastic leukemia (ALL) and inflammatory bowel disease (IBD): their therapeutic action is affected by the enzyme thiopurine-S-methyltransferase (TPMT) whose encoding gene is polymorphic and whose enzymatic activity is also trans -regulated by the intronic single nucleotide polymorphism (SNP) rs2413739 (T>C) in the PACSIN2 gene.