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Explaining TPMT genotype/phenotype discrepancy by haplotyping of TPMT*3A and identification of a novel sequence variant, TPMT*23
Linköping University, Faculty of Health Sciences. Linköping University, Department of Medicine and Care, Clinical Pharmacology.ORCID iD: 0000-0002-2809-7591
Linköping University, Faculty of Health Sciences. Linköping University, Department of Medicine and Care, Clinical Pharmacology.
Linköping University, Faculty of Health Sciences. Linköping University, Department of Medicine and Care, Clinical Pharmacology.
Linköping University, Department of Medical and Health Sciences, Clinical Pharmacology. Linköping University, Faculty of Health Sciences.
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2007 (English)In: Pharmacogenetics and Genomics, ISSN 1744-6872, Vol. 17, no 10, 891-895 p.Article in journal (Refereed) Published
Abstract [en]

Thiopurine methyltransferase (TPMT) is a polymorphic enzyme involved in the metabolism of thiopurine drugs. Owing to polymorphisms in the TPMT gene (TPMT*2-*22), the enzyme activity varies interindividually. Patients with reduced TPMT activity may develop adverse reactions when treated with standard doses of thiopurines. This work focuses on a TPMT genotype/phenotype discrepancy found in a patient during routine testing. The patient displayed very low TPMT enzyme activity and she was genotyped by pyrosequencing as being heterozygous for the 460G>A and 719A>G polymorphisms (TPMT*3A). Complete sequencing in combination with haplotyping of the TPMT gene revealed a novel sequence variant, 500C>G, on one allele and TPMT*3A on the other allele, giving rise to the novel genotype TPMT*3A/*23. When investigating the patient's relatives, they too had the TPMT*3A/*23 genotype in combination with low enzyme activity. We conclude that this novel variant allele affects enzyme activity, as the individuals carrying it had almost undetectable TPMT activity. © 2007 Lippincott Williams & Wilkins, Inc.

Place, publisher, year, edition, pages
2007. Vol. 17, no 10, 891-895 p.
Keyword [en]
haplotypes, single mucleotide polymorphism, thiopurine methyltransferase
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-39374DOI: 10.1097/FPC.0b013e3282ef642bLocal ID: 48065OAI: oai:DiVA.org:liu-39374DiVA: diva2:260223
Available from: 2009-10-10 Created: 2009-10-10 Last updated: 2013-09-03

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Lindqvist Appell, MalinSkoglund, KarinKarlgren, AnnaPeterson, CurtSöderkvist, PeterAlmer, Sven

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Lindqvist Appell, MalinSkoglund, KarinKarlgren, AnnaPeterson, CurtSöderkvist, PeterAlmer, Sven
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Faculty of Health SciencesClinical PharmacologyClinical PharmacologyDivision of cell biologyGastroenterology and HepatologyDepartment of Endocrinology and Gastroenterology UHL
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