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Thiopurine methyltransferase polymorphisms in a Brazilian population

The Pharmacogenomics Journal volume 3, pages 178–182 (2003)Cite this article

ABSTRACT

Thiopurine methyltransferase (TPMT) catalyses the S-methylation of thiopurine drugs. Low-activity phenotypes are correlated with several mutations in the TPMT gene. Polymorphisms of TPMT have been reported for Caucasians, African-Americans and Asians. Since ethnic differences have been demonstrated worldwide, it remains to be elucidated in Brazil. The Brazilian population is the result of five centuries of interethnic crosses between peoples from almost all continents as well as autochthonous Amerindians, all forming the fifth largest and one of the most heterogeneous populations in the world. The frequency of six allelic variants of the TPMT gene, *2 (G238C) (2.2%), *3A (G460A and A719G) (1.5%), *3B (G460A) (0.2%), *3C (A719G) (1.0%), *5 (0%) and *6 (0%) were determined in Brazilian subjects using polymerase chain reaction (PCR)-RFLP and allele-specific PCR-based assays. This study provides the first analysis of TPMT mutant allele frequency in a sample of the Brazilian population.

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Abbreviations

ALL:

acute lymphoblastic leukemia

6-MP:

6-mercatopurine

TPMT S-adenosyl L-methionine::

thiopurine S-methyltransferase

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Acknowledgements

We thank Dr SD Pena for reading the manuscript and Ms Adriana Moreira for technical assistance. This work was supported by CNPq, Brazil (Grant # 550835/01).

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Authors and Affiliations

  1. Departamento de Farmacologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    W L Boson, M A Romano-Silva, P V Teixeira-Vidigal & L De Marco

  2. Departamento de Morfologia, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil

    H Correa

  3. Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, Brazil

    R P Falcão

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  1. W L Boson
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Correspondence to L De Marco.

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Boson, W., Romano-Silva, M., Correa, H. et al. Thiopurine methyltransferase polymorphisms in a Brazilian population. Pharmacogenomics J 3, 178–182 (2003). https://doi.org/10.1038/sj.tpj.6500175

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