The occurrence of risk variant alleles TPMT in the Czech and Slovak population

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F62157124%3A16370%2F13%3A43871825" target="_blank" >RIV/62157124:16370/13:43871825 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Result language
angličtina
Original language name
The occurrence of risk variant alleles TPMT in the Czech and Slovak population
Original language description
One of the examples of pharmacogenomics in clinical use is the detection of polymorphisms in the gene for Thiopurine S-methyltransferase which metabolizes azathioprine. The presence of these polymorphisms determines phenotypes with a low enzymatic activity: variant alleles TPMT*3A (460G}A and 719A}G), TPMT*3B (460G}A), TPMT*3C (719A}G), and TPMT*2 (238G}C). We determined the occurrence of TPMT alleles in 1000 Caucasians. Our study group included 91.1% (n=911) carriers of the standard genotype (homozygous for TPMT*1). To the contrary, almost 1 in 10 patients (n=88) was a carrier of a variant allele. The frequency of the rare TPMT*2 allele was 0.1%. The TPMT*3A allele occurred with a frequency of 3.7%, and variant alleles TPMT*3B and TPMT*3C with a frequency of 0.2% and 0.5%, respectively. A higher risk of leucopenia, induced by the accumulation of active azathioprine metabolites should be taken into consideration when dealing with these patients. In one individual the variant alleles in
Czech name
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Czech description
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Project
<a href="/en/project/FR-TI2%2F075" target="_blank" >FR-TI2/075: *Development of pharmacogenetic diagnostic kit for detection of gene polymorphisms in the therapy by thiopurine drugs</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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