objective: cyp2d6, an enzyme, metabolizes a large number of commonly prescribed drugs. variations in cyp2d6 gene encoding this enzyme have been associated with individual differences in drug metabolism rates. the purpose of our study was to identify some allelic variants of cyp2d6 gene and to detect defective cyp2d6 alleles, as part of a pharmacogenetic screening program. materials and methods:...

BACKGROUND There is growing interest in the CYP2D6 gene because of its key role in the metabolism of numerous commonly used drugs. AIM We compared the frequency of the most frequent null CYP2D6 alleles (CYP2D6*3, CYP2D6*4,CYP2D6*5, CYP2D6*6, CYP2D6*7 and CYP2D6*8) between individuals from the Spanish population and from La Alpujarra. SUBJECTS AND METHODS The present study comprises Spanish ...

Cytochrome P-450 2D6 (CYP2D6) is an important human drug-metabolizing enzyme responsible for the oxidation of more than 30 widely used therapeutic agents. The enzymes encoded by the published genomic [Kimura, Umeno, Skoda, Meyer and Gonzalez (1989) Am. J. Hum. Genet. 45, 889-904] and cDNA [Gonzalez, Skoda, Kimura, Umeno, Zanger, Nebert, Gelboin, Hardwick and Meyer (1988) Nature 331, 442-446] se...

CYP2D6-mediated drug metabolism exhibits large interindividual variability. Although genetic variations in the CYP2D6 gene are well known contributors to the variability, the sources of CYP2D6 variability in individuals of the same genotype remain unexplained. Accumulating data indicate that transcriptional regulation of CYP2D6 may account for part of CYP2D6 variability. Yet, our understanding ...

During the course of sequencing for the CYP2D6 gene, we found a novel single nucleotide polymorphism of g.3318G>A (E383K) associated with CYP2D6*10, termed as CYP2D6*72. We also found a g.1611T>A (F120I) in the CYP2D6*49, which was previously identified as a CYP2D6*10-associated allele in an independent Japanese population. To clarify the effects of these novel CYP2D6*10 haplotypes on the funct...

CYP2D6 is an important enzyme mediating phase I metabolic reactions and is involved in metabolism of 20-25% of the clinically useful drugs. High frequency of polymorphism in CYP2D6 gene has resulted in the categorization of individuals as poor, intermediate, extensive and ultra-rapid metabolisers of CYP2D6 substrate drugs. The CYP2D6 polymorphism significantly affects the pharmacokinetic profil...

It has been suggested that the reduced function allele with reduced cytochrome P450 (CYP) 2D6 activity, CYP2D6*10, is associated with the interindividual differences in the plasma paroxetine concentrations, but there is no data presently available regarding the influence of the CYP2D6*10 polymorphism on the pharmacokinetic parameters, eg, Michaelis-Menten constant (Km) and maximum velocity (Vma...

Cytochrome P450 2D6 (CYP2D6) is a major drug-metabolizing enzyme responsible for eliminating approximately 20% of marketed drugs. Studies have shown that differential transcriptional regulation of CYP2D6 may contribute to large interindividual variability in CYP2D6-mediated drug metabolism. However, the factors governing CYP2D6 transcription are largely unknown. We previously demonstrated small...

Our objectives were to identify CYP2D6 genetic polymorphisms in a Korean population, to compare the allele frequencies with those of other ethnic groups, and to evaluate variant-induced functional variations in dextromethorphan (DM) metabolism in vitro and in vivo. Thirty-eight single nucleotide polymorphisms of CYP2D6 were identified by direct DNA sequencing in 51 Koreans. An extended set of 7...

Cytochrome P450 2D6 (CYP2D6) is highly polymorphic. CYP2D6-2D7 hybrid genes can be present in samples containing CYP2D6*4 and CYP2D6*10 alleles. CYP2D7-2D6 hybrid genes can be present in samples with duplication signals and in samples with homozygous genotyping results. The frequency of hybrid genes in clinical samples is unknown. We evaluated 1390 samples for undetected hybrid genes by polymer...