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HERO ID
2572145
Reference Type
Journal Article
Title
Pilot study for the characterization of pharmacogenetically relevant CYP2D6, CYP2C19 and ABCB1 gene polymorphisms in the Hungarian population
Author(s)
Rideg, O; Háber, A; Botz, L; Szücs, F; Várnai, R; Miseta, A; Kovács, GL
Year
2011
Is Peer Reviewed?
Yes
Journal
Cell Biochemistry and Function
ISSN:
0263-6484
EISSN:
1099-0844
Volume
29
Issue
7
Page Numbers
562-568
Language
English
PMID
21826689
DOI
10.1002/cbf.1788
Web of Science Id
WOS:000297632000006
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 2677 G was 50.4%. Although frequency data of G2677T/A SNP in the European area are limited, some discrepancies with other studies were found.
Keywords
CYP2D6 gene; CYP2C19 gene; ABCB1 gene; allele frequencies; Hungarian population
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