Document Detail


Nomenclature for alleles of the thiopurine methyltransferase gene.
MedLine Citation:
PMID:  23407052     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Malin L Appell; Jonathan Berg; John Duley; William E Evans; Martin A Kennedy; Lynne Lennard; Tony Marinaki; Howard L McLeod; Mary V Relling; Elke Schaeffeler; Matthias Schwab; Richard Weinshilboum; Allen E J Yeoh; Ellen M McDonagh; Joan M Hebert; Teri E Klein; Sally A Coulthard
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pharmacogenetics and genomics     Volume:  23     ISSN:  1744-6880     ISO Abbreviation:  Pharmacogenet. Genomics     Publication Date:  2013 Apr 
Date Detail:
Created Date:  2013-03-06     Completed Date:  2013-09-04     Revised Date:  2014-04-02    
Medline Journal Info:
Nlm Unique ID:  101231005     Medline TA:  Pharmacogenet Genomics     Country:  United States    
Other Details:
Languages:  eng     Pagination:  242-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
6-Mercaptopurine / metabolism
Alleles
Azathioprine / metabolism
Genotype
Humans
Inflammatory Bowel Diseases / enzymology*
Methyltransferases / classification*,  genetics*,  metabolism
Pharmacogenetics
Polymorphism, Genetic*
Thioguanine / metabolism
Grant Support
ID/Acronym/Agency:
HL 105918/HL/NHLBI NIH HHS; NIH GM 92666/GM/NIGMS NIH HHS; NIH R24 GM61374/GM/NIGMS NIH HHS; NIH R37 CA 36401/CA/NCI NIH HHS; P01 CA142538/CA/NCI NIH HHS; P01CA142538/CA/NCI NIH HHS; P30 CA 21765/CA/NCI NIH HHS; R01 CA132780/CA/NCI NIH HHS; R01 GM028157/GM/NIGMS NIH HHS; R01 GM28157/GM/NIGMS NIH HHS; R24 GM061374/GM/NIGMS NIH HHS; R37 CA 36401/CA/NCI NIH HHS; R37 CA036401/CA/NCI NIH HHS; U01 GM 92666/GM/NIGMS NIH HHS; U01 HL 105918/HL/NHLBI NIH HHS; U19 GM61388/GM/NIGMS NIH HHS; UL1 RR025747/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
E7WED276I5/6-Mercaptopurine; EC 2.1.1.-/Methyltransferases; EC 2.1.1.67/thiopurine methyltransferase; FTK8U1GZNX/Thioguanine; MRK240IY2L/Azathioprine
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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