Pilot study for the characterization of pharmacogenetically relevant CYP2D6, CYP2C19 and ABCB1 gene polymorphisms in the Hungarian population

Orsolya Rideg, Ágota Háber, Lajos Botz, Ferenc Szücs, Réka Várnai, A. Miseta, G. Kovács

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Polymorphisms of CYP450 metabolizer enzymes and transport proteins play crucial roles in the inter-individual variability of drug efficiency. The aim of our study was to predict the frequency of functional variants of CYP2D6, CYP2C19 and ABCB1 genes in the Hungarian population. One hundred twelve unrelated healthy subjects donated DNA sample in the study. ABCB1 C3435T and G2677T/A single-nucleotide polymorphisms (SNPs) were determined by LightCycler polymerase chain reaction. Because only limited amount of data is available on the rare allelic variants of CYP2D6 in the European populations, our study applied an expanded set of CYP2D6 and CYP2C19 alleles by using AmpliChip test. Our results show that the CYP2D6 phenotypes were 1.9% ultra-rapid metabolizer, 6.5% intermediate metabolizer (IM), 8.3% poor metabolizer (PM) and 83.3% extensive metabolizer (EM), and the CYP2C19 phenotypes were 1.8% PM, 31.2% IM and 67% EM. The prevalence of the commonly observed CYP2D6 and CYP2C19 alleles in our study corresponds with that of other European populations. Nevertheless, our study confirms that extending the CYP2D6 allele set with loss-of-function variants such as CYP2D6*7, *9, *41 is worth considering. Frequency of the wild type ABCB1 3435C was 42.8% whereas the prevelance of 2677G was 50.4%. Although frequency data of G2677T/A SNP in the European area are limited, some discrepancies with other studies were found.

Original languageEnglish
Pages (from-to)562-568
Number of pages7
JournalCell Biochemistry and Function
Volume29
Issue number7
DOIs
Publication statusPublished - Oct 2011

Fingerprint

Cytochrome P-450 CYP2D6
Polymorphism
Genes
Population
Alleles
Single Nucleotide Polymorphism
Nucleotides
Phenotype
Polymerase chain reaction
Cytochrome P-450 CYP2C19
Healthy Volunteers
Carrier Proteins
Polymerase Chain Reaction
DNA
Enzymes
Pharmaceutical Preparations

Keywords

  • ABCB1 gene
  • Allele frequencies
  • CYP2C19 gene
  • CYP2D6 gene
  • Hungarian population

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology
  • Clinical Biochemistry

Cite this

Pilot study for the characterization of pharmacogenetically relevant CYP2D6, CYP2C19 and ABCB1 gene polymorphisms in the Hungarian population. / Rideg, Orsolya; Háber, Ágota; Botz, Lajos; Szücs, Ferenc; Várnai, Réka; Miseta, A.; Kovács, G.

In: Cell Biochemistry and Function, Vol. 29, No. 7, 10.2011, p. 562-568.

Research output: Contribution to journalArticle

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AU - Kovács, G.

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