engleski

Genetic polymorphisms of Cytochromes P450:CYP2C9, CYP2C19, and CYP2D6 in Croatian Population

To determine the prevalence of most common mutations of cytochrome P450 (CYP), ie, allelic variants of CYP2C9, CYP2C19, and CYP2D6, and to predict genotype frequency in the Croatian population. CYP genotypewas determined in 200 non-related Croatian citizens. DNA isolated from blood sampleswas used for the analysis of themost common allelic variants of CYP2C9, CYP2C19, and CYP2D6 by polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) method. For 200 subjects genotyped for CYP2C9, the allele frequencies of CYP2C9*1 (wt), CYP2C9*2, and CYP2C9*3 were 0.74, 0.165, and 0.095, respectively. Among them, 3.5% of subjects were predicted to be poor metabolizers. For CYP2C19, the most frequent alleles were CYP2C19*1 and CYP2C19*2, with frequencies of 0.85 and 0.15, respectively ; 3% of subjects were predicted to be poor metabolizers. For CYP2D6, themost frequent alleles were CYP2D6*1 (frequency 0.765), CYP2D62* (0.04), CYP2D6*3 (0.0275), CYP2D6*4 (0.14), CYP2D6*5 ( 0.01), and CYP2D6*6 (0.015). Out of these, 3% were predicted to be poor metabolizers, and 4% were predicted to be ultra- rapid metabolizers. The prevalence of allelic variants and predicted genotypes in the Croatian population is in accordance with the other European populations, and it can be interpolated between the values for mid- European andMediterranean populations.

alleles ; Croatia ; cytochrome P450 enzyme system ; genotype ; phenotype ; polymorphism (genetics)

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