Summary:
Objective: The aim of this study was to investigate the frequency of functionally important variant alleles of CYP2C9
gene through the Czech population.
Setting: Clinical Pharmacology Unit, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Methods: 254 unrelated, healthy volunteers were enrolled in the study after giving written consent. Leucocyte DNA was
analysed to detect the presence of CYP2C9*2 and CYP2C9*3 variant alleles by PCR-RFLP.
Results: The variant allelic frequencies in our population are 81.9%, 12.2% and 5.9%, for CYP2C9*1, CYP2C9*2,
CYP2C9*3, respectively. The distribution of variant alleles complies to the Hardy-Weinberg equilibrium. Prevalence of
heterozygous genotypes is as follow: CYP2C9*1/*2 – 20.1%; CYP2C9*1/*3 – 9.8%; CYP2C9*2/*3 – 0.4%. Five subjects
(2.0%) are classified as a CYP2C9*2/*2 homozygous, 0.8% as a CYP2C9*3/*3 homozygous.
Conclusions: The frequencies of functional variant alleles of CYP2C9 in the Czech population are in concordance with
the other Caucasians population.
Key words:
CYP2C9, cytochrome P450, Czech population, polymorphism, pharmacogenetics.
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