ArticlePharmacogenetics and genomics2013
Nomenclature for alleles of the thiopurine methyltransferase gene.
Article in Pharmacogenetics and genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 6 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
50 citing papers in PubMed, 6 syntheses or guidelines pooled it, 123 citations in OpenAlex.
- Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between TPMT/NUDT15 and thiopurines.European journal of human genetics : EJHG · 2026Guideline
- The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function.American journal of human genetics · 2025Guideline
- Polymorphic variation in TPMT is the principal determinant of TPMT phenotype: A meta-analysis of three genome-wide association studies.Clinical pharmacology and therapeutics · 2017Pooled it
- Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines.Annals of laboratory medicine · 2017Guideline
- Thiopurine S-methyltransferase testing for averting drug toxicity in patients receiving thiopurines: a systematic review.Pharmacogenomics · 2016Pooled it
- Pooled it
- Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.Scientific reports · 2016Trial
- Hilar and Mediastinal Lymphadenopathy as a Potential Manifestation of Azathioprine-Associated Hypersensitivity Syndrome.Pharmaceuticals (Basel, Switzerland) · 2026Article
- Pharmacogenomic Testing in the Clinical Laboratory: Historical Progress and Future Opportunities.Annals of laboratory medicine · 2025Review
- Relationship Between Thiopurine S-Methyltransferase Genotype and Phenotype in Pediatric Acute Lymphoblastic Leukemia in Addis Ababa, Ethiopia.The journal of pediatric pharmacology and therapeutics : JPPT : the official journal of PPAG · 2025Article
- A Rapid and Reliable Absorbance Assay to Identify Drug-Drug Interactions with Thiopurine Drugs.Metabolites · 2024Article
- Genetic ancestry in population pharmacogenomics unravels distinct geographical patterns related to drug toxicity.iScience · 2024Article
- Genome-Wide Association Study for the Genetic Determinants of Thiopurine Methyltransferase Protein Expression in Human Livers and Racial Differences.Pharmaceutical research · 2023Article
- Comparison of variants in TPMT and NUDT15 between sequencing and genotyping methods in a multistate pediatric institution.Clinical and translational science · 2023Article
- Analysis of the NUDT15 gene and metabolites of azathioprine in Japanese patients with inflammatory bowel disease.BMC gastroenterology · 2023Article
- Population-Specific Distribution ofTherapeutics and clinical risk management · 2023Article
- Molybdenum Cofactor Catabolism Unravels the Physiological Role of the Drug Metabolizing Enzyme Thiopurine S-Methyltransferase.Clinical pharmacology and therapeutics · 2022Article
- Pharmacogenomic testing in paediatrics: Clinical implementation strategies.British journal of clinical pharmacology · 2022Review
- Thiopurine S-Methyltransferase Polymorphisms Predict Hepatotoxicity in Azathioprine-Treated Patients with Autoimmune Diseases.Journal of personalized medicine · 2022Article
- Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?The Journal of molecular diagnostics : JMD · 2022Article
Corrections and comments
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Authors and funding
17 authors at 13 institutions in 8 countries.
Funding
Abstract
The drug-metabolizing enzyme thiopurine methyltransferase (TPMT) has become one of the best examples of pharmacogenomics to be translated into routine clinical practice. TPMT metabolizes the thiopurines 6-mercaptopurine, 6-thioguanine, and azathioprine, drugs that are widely used for treatment of acute leukemias, inflammatory bowel diseases, and other disorders of immune regulation. Since the discovery of genetic polymorphisms in the TPMT gene, many sequence variants that cause a decreased enzyme activity have been identified and characterized. Increasingly, to optimize dose, pretreatment determination of TPMT status before commencing thiopurine therapy is now routine in many countries. Novel TPMT sequence variants are currently numbered sequentially using PubMed as a source of information; however, this has caused some problems as exemplified by two instances in which authors' articles appeared on PubMed at the same time, resulting in the same allele numbers given to different polymorphisms. Hence, there is an urgent need to establish an order and consensus to the numbering of known and novel TPMT sequence variants. To address this problem, a TPMT nomenclature committee was formed in 2010, to define the nomenclature and numbering of novel variants for the TPMT gene. A website (http://www.imh.liu.se/tpmtalleles) serves as a platform for this work. Researchers are encouraged to submit novel TPMT alleles to the committee for designation and reservation of unique allele numbers. The committee has decided to renumber two alleles: nucleotide position 106 (G>A) from TPMT*24 to TPMT*30 and position 611 (T>C, rs79901429) from TPMT*28 to TPMT*31. Nomenclature for all other known alleles remains unchanged.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.