title: Sequence-based CYP2D6 genotyping in the Korean population.
abstract: For clinical application of pharmacogenetic tests, quantitative prediction of enzyme activity based on accurate determination of genotype is essential. There has been limited information available on the genetic polymorphism of CYP2D6 in the Korean population. In this study, CYP2D6 genotypes were assessed in 400 Korean subjects. Twenty-eight different CYP2D6 alleles and 35 genotypes were detected. On the basis of the genotype determined, the frequency of poor metabolizers and ultrarapid metabolizers were 0.22% and 1.25%, respectively. The CYP2D6 activity expected in regard to different allele combinations varies widely within the extensive and intermediate metabolizer groups. The frequencies of CYP2D6*10 and CYP2D6*5 were 45.00% and 6.13%, respectively. CYP2D6*10xN was found in 4 out of 9 cases with a CYP2D6 duplication. Fifteen heterozygotes for *41 were noted. In addition, the authors measured plasma concentrations of 16 healthy volunteers after administration of nortriptyline and identified the impact of the CYP2D6 genotype on nortriptyline metabolism. This is the first large-scale study to examine the genetic polymorphism of CYP2D6 using sequence-based genotyping in an Asian population. Our results further the understanding of CYP2D6 pharmacogenetics and could be helpful for future clinical studies in the Asian population.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Kwang Min
authors.initials: KM
authors.lastname: Sohn
authors.forename: Ji Young
authors.initials: JY
authors.lastname: Ryu
authors.forename: Young Ran
authors.initials: YR
authors.lastname: Yoon
authors.forename: Jae Gook
authors.initials: JG
authors.lastname: Shin
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000328:Adult; D000483:Alleles; D000929:Antidepressive Agents, Tricyclic / Q000493:pharmacokinetics*; D019540:Area Under Curve; D044466:Asian People; D019389:Cytochrome P-450 CYP2D6 / Q000235:genetics*; D005838:Genotype; D006207:Half-Life; D006801:Humans; D007723:Korea; D008297:Male; D008657:Metabolic Clearance Rate; D009661:Nortriptyline / Q000493:pharmacokinetics*; D011110:Polymorphism, Genetic
chemical_list: D000929:Antidepressive Agents, Tricyclic; D009661:Nortriptyline; D019389:Cytochrome P-450 CYP2D6