Clinical Pharmacogenetics Implementation Consortium Guidelines for Thiopurine Methyltransferase Genotype and Thiopurine Dosing [PDF]
Thiopurine methyltransferase (TPMT) activity exhibits monogenic co-dominant inheritance, with ethnic differences in the frequency of occurrence of variant alleles. With conventional thiopurine doses, homozygous TPMT-deficient patients (~1 in 178 to 1 in 3,736 individuals with two nonfunctional TPMT alleles) experience severe myelosuppression, 30-60% of
Relling, M V +9 more
openaire +5 more sources
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Thiopurine Dosing Based on TPMT and NUDT15 Genotypes: 2025 Update. [PDF]
Thiopurine methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15) are key enzymes that catabolize thiopurines. Decreased or no‐function alleles in TPMT and NUDT15 are associated with reduced or no enzyme activity and predictive of pronounced adverse effects, including severe myelosuppression, that may occur among individuals treated with standard ...
Maillard M +18 more
europepmc +2 more sources
Pharmacogenomics of Thiopurine Drugs: A Bench-To-Bedside Success Story in Thailand. [PDF]
ABSTRACT Thiopurine drugs are the cornerstone treatment for many diseases such as acute lymphoblastic leukemia (ALL), organ rejection, inflammatory bowel disease (IBD), systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) and other autoimmune diseases.
Biswas M, John S, Murad MA, Sukasem C.
europepmc +2 more sources
Genetic Determinants of Hematopoietic Toxicity Risk in Thai Pediatric Patients Undergoing 6-Mercaptopurine Treatment. [PDF]
ABSTRACT The nucleoside diphosphate‐linked moiety X‐type motif 15 (NUDT15) has been identified as a key genetic determinant of 6‐mercaptopurine (6‐MP)‐induced hematopoietic toxicity in populations with a high frequency of NUDT15 variants but a low frequency of thiopurine S‐methyltransferase (TPMT) variants.
Khaeso K +8 more
europepmc +2 more sources
gene variants and thiopurine-induced leukopenia in patients with inflammatory bowel disease [PDF]
Thiopurine has been used to maintain remission and to reduce antidrug antibody formation in monoclonal antibody therapy in patients with inflammatory bowel disease (IBD). The use of thiopurine is limited by side effects such as leukopenia.
Katsuyoshi Matsuoka
doaj +1 more source
Association between thiopurine S-methyltransferase polymorphisms and thiopurine-induced adverse drug reactions in patients with inflammatory bowel disease: a meta-analysis. [PDF]
Thiopurine drugs are well established treatments in the management of inflammatory bowel disease (IBD), but their use is limited by significant adverse drug reactions (ADRs).
Yue-Ping Liu +8 more
doaj +1 more source
Thiopurines, including thioguanine (TG), 6-mercaptopurine (6-MP), and azathioprine (AZA), are extensively used in clinical practice in children with acute lymphoblastic leukemia (ALL) and inflammatory bowel diseases.
Hong-Li Guo +11 more
doaj +1 more source
Unraveling Novel Genetic Determinants of Thiopurine Response Via TWAS. [PDF]
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Thiopurines such as 6‐mercaptopurine (6MP) are essential in ALL maintenance therapy. However, dose‐limiting toxicities can significantly disrupt treatment. While genetic variants in TPMT and NUDT15 are known to affect thiopurine response, many patients with normal function ...
Bidoli C +5 more
europepmc +2 more sources
Background Polymorphisms in thiopurine methyltransferase (TPMT) and Nudix hydrolase-15 (NUDT15) have been implicated as the predominant cause of thiopurine induced leukopenia in the Western countries and East Asia respectively.
Narinder Grover +9 more
doaj +1 more source
Economic evaluations of pharmacogenetic and pharmacogenomic screening tests : a systematic review : second update of the literature [PDF]
Objective : Due to extended application of pharmacogenetic and pharmacogenomic screening (PGx) tests it is important to assess whether they provide good value for money. This review provides an update of the literature. Methods : A literature search was
Annemans, Lieven +7 more
core +9 more sources

