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

Kód výsledku v 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>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

O - Ostatní výsledky

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/FR-TI2%2F075" target="_blank" >FR-TI2/075: *Vývoj farmakogenetické diagnostické soupravy pro stanovení genetických polymorfismů při léčbě thiopurinovými léčivy</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů