title: Genetic polymorphisms and novel allelic variants of CYP2C19 in the Chinese Han population.
abstract: OBJECTIVE
  This study aims to systematically investigate the genetic polymorphisms of the CYP2C19 gene and provide accurate data of the allele distribution pattern in the Chinese Han population.
  
  
  METHODS
  We amplified all nine exons of the CYP2C19 gene in 2127 unrelated healthy Chinese Han subjects from two geographical locations (Zhejiang province, n = 1127; Hebei province, n = 1000), using direct sequencing.
  
  
  RESULTS
  In total, six previously reported alleles were found in our study, in which two alleles CYP2C19*6 and CYP2C19*18 were reported for the first time in Chinese Han subjects. In addition, 35 novel variants were detected in the present work, which included 11 new named alleles, 12 nonsynonymous mutations and one insert variant.
  
  
  CONCLUSIONS
  This study provides important data on the pattern of CYP2C19 polymorphisms in Chinese Han subjects, using the largest group of individuals. Furthermore, the study also detects the largest number of novel alleles in one population. These findings are of potential benefit to the development of personalized medicine for the Chinese Han population.
authors.affiliation: Graduate School, Wenzhou Medical College, University-Town, Wenzhou, Zhejiang 325035, People's Republic of China.
authors.forename: Li-Ming
authors.initials: LM
authors.lastname: Hu
authors.forename: Da-Peng
authors.initials: DP
authors.lastname: Dai
authors.forename: Guo-Xin
authors.initials: GX
authors.lastname: Hu
authors.forename: Jie-Fu
authors.initials: JF
authors.lastname: Yang
authors.forename: Ren-Ai
authors.initials: RA
authors.lastname: Xu
authors.forename: Li-Ping
authors.initials: LP
authors.lastname: Yang
authors.forename: Jian-Chang
authors.initials: JC
authors.lastname: Qian
authors.forename: Ren-Shan
authors.initials: RS
authors.lastname: Ge
authors.forename: Jian-Ping
authors.initials: JP
authors.lastname: Cai
mesh_terms: D000328:Adult; D001189:Aryl Hydrocarbon Hydroxylases / Q000097:blood / Q000235:genetics*; D002681:China; D065731:Cytochrome P-450 CYP2C19; D005091:Exons; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D006801:Humans; D008297:Male; D009154:Mutation; D011110:Polymorphism, Genetic; D057285:Precision Medicine
chemical_list: D001189:Aryl Hydrocarbon Hydroxylases; C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19