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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Rideg, Orsolya Háber, Agota Botz, Lajos Szücs, Ferenc Várnai, Réka Miseta, Attila Kovács, Gábor L.
Spatial Coverage	Hungary
Description	Country affiliation: Hungary Author Affiliation: Rideg O ( Institute of Laboratory Medicine, University of Pécs, Pécs, Hungary.)
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 CYP2D67, 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.
File Format	HTM / HTML
ISSN	02636484
Issue Number	7
Volume Number	29
e-ISSN	10990844
Journal	Cell Biochemistry and Function
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2011-10-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Cell Biology Discipline Biochemistry Aryl Hydrocarbon Hydroxylases Genetics Cytochrome P-450 Cyp2d6 P-glycoprotein Polymorphism, Single Nucleotide Adult Alleles Asian Continental Ancestry Group Statistics & Numerical Data Cytochrome P-450 Cyp2c19 European Continental Ancestry Group Female Gene Duplication Gene Frequency Genome, Human Genotype Humans Hungary Epidemiology Male Middle Aged P-glycoproteins Pharmacogenetics Pilot Projects Polymerase Chain Reaction Prevalence Young Adult Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Cell Biology Medicine Biochemistry Clinical Biochemistry

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