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Nomenclature for alleles of the thiopurine methyltransferase gene
Linköping University, Department of Medical and Health Sciences, Clinical Pharmacology. Linköping University, Faculty of Health Sciences.ORCID iD: 0000-0002-2809-7591
City Hospital, England .
University of Queensland, Australia .
St Jude Childrens Research Hospital, TN USA .
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2013 (English)In: Pharmacogenetics & Genomics, ISSN 1744-6872, Vol. 23, no 4, 242-248 p.Article, review/survey (Refereed) Published
Abstract [en]

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 ( 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 (Gandgt;A) from TPMT*24 to TPMT*30 and position 611 (Tandgt;C, rs79901429) from TPMT*28 to TPMT*31. Nomenclature for all other known alleles remains unchanged. Pharmacogenetics and Genomics 23: 242-248

Place, publisher, year, edition, pages
Lippincott, Williams and Wilkins , 2013. Vol. 23, no 4, 242-248 p.
Keyword [en]
allele, nomenclature, pharmacogenetics, thiopurine methyltransferase
National Category
Medical and Health Sciences
URN: urn:nbn:se:liu:diva-90743DOI: 10.1097/FPC.0b013e32835f1cc0ISI: 000316109700009OAI: diva2:614711

Funding Agencies|Swedish Childrens Cancer Foundation||Swedish Cancer Society||NHMRC||Gutsy Group||NIH|R37 CA 36401U01 GM 92666U01 HL 105918P30 CA 21765UL1 RR025747P01CA142538GM 92666HL 105918U19 GM61388RO1 GM28157RO1 CA132780R24 GM61374|ALSAC||Jim and Mary Carney Charitable Trust, Whangarei, New Zealand||Leukaemia and Lymphoma Research, London, UK||Guys and St Thomas Charity||Robert Bosch Foundation, Stuttgart||Deutsche Forschungsgemeinschaft, Germany|SFB685|Childrens Cancer Foundation, Singapore||Newcastle Healthcare Charity||Newcastle upon Tyne Hospitals NHS Charity||

Available from: 2013-04-05 Created: 2013-04-05 Last updated: 2013-09-03

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Lindqvist Appell, Malin
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