title: Functional characterization of CYP2D6 novel allelic variants identified in the Chinese Han population.
abstract: OBJECTIVE
  This study was aimed to functionally characterize four novel CYP2D6 alleles identified in Chinese Han population.
  
  
  METHODS
  CYP2D6 proteins of wild-type and the four novel variants along with CYP2D6.2 and CYP2D6.10 were heterologously expressed in yeast cells and the kinetic parameters were determined.
  
  
  RESULTS
  Compared with CYP2D6.1 (frequency in Chinese 24.65%), CYP2D6.X (1.63%), CYP2D6.Y (1.50%), CYP2D6.Z (0.81%), CYP2D6.10 (52.53%) and CYP2D6.75 (0.13%) exhibited low activity at different degrees, whereas the kinetic parameters of CYP2D6.2 (11.06%) were much the same with CYP2D6.1. The novel allele CYP2D6.75 showed decreased enzyme activity.
  
  
  CONCLUSIONS
  This is the first study to conduct functional analysis of CYP2D6 four novel alleles in Chinese Han population, which might be helpful for optimizing pharmacotherapy and the design of personalized medicine.
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental & Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Qingqing
authors.initials: Q
authors.lastname: Xu
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental & Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Zhenqiang
authors.initials: Z
authors.lastname: Wu
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental & Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Lun
authors.initials: L
authors.lastname: Yang
authors.affiliation: Shanghai Pulmonary Hospital, Shanghai, China.
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Zhang
authors.affiliation: Jinan Infectious Disease Hospital, Shandong University, Jinan, China.
authors.forename: Zhongtao
authors.initials: Z
authors.lastname: Gai
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental & Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.
authors.forename: Lili
authors.initials: L
authors.lastname: Chen
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental & Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory of Psychotic Disorders, Shanghai, China.
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.affiliation: Bio-X Institutes, Key Laboratory for the Genetics of Developmental & Neuropsychiatric Disorders (Ministry of Education), Shanghai Jiao Tong University, Shanghai, China.|Shanghai Key Laboratory of Psychotic Disorders, Shanghai, China.
authors.forename: Shengying
authors.initials: S
authors.lastname: Qin
mesh_terms: D000483:Alleles; D044466:Asian People; D019389:Cytochrome P-450 CYP2D6 / Q000737:chemistry / Q000235:genetics*; D003647:Debrisoquin / Q000031:analogs & derivatives / Q000737:chemistry; D014644:Genetic Variation; D006801:Humans; D011994:Recombinant Proteins / Q000235:genetics; D012441:Saccharomyces cerevisiae / Q000235:genetics
chemical_list: D011994:Recombinant Proteins; C012359:4-hydroxydebrisoquin; D019389:Cytochrome P-450 CYP2D6; D003647:Debrisoquin
keywords: CYP2D6; Han Chinese; allele; functional characterization; pharmacogenomics