CYP2C9 polymorphism analysis in Han Chinese populations: building the largest allele frequency database

摘要: Genetic polymorphisms of CYP2C9 significantly influence the pharmacokinetics and pharmacodynamics some drugs, which might result in adverse drug effects therapeutic failure. Several studies have been performed on genetic Han Chinese populations. However, these only focused two commonly investigated alleles, *2 *3, relatively small sample sizes. To scale up gene-scanning region determine precise data distribution pattern populations, unrelated healthy volunteers from Zhejiang Province (n=1127) Hebei (n=1000) were recruited as subjects for direct sequencing all exons CYP2C9. As a result, 14 previously reported alleles detected this work, 8 (*14, *16, *19, *23, *27, *29, *33 *34) described first time In addition, 37 novel mutations also detected, 22 variants non-synonymous, 21 new *36-*56, designated by Human CYP Allele Nomenclature Committee. vitro functional analysis revealed that 17 had significant protein’s catalytic activity. Our study provides most accurate populations detects largest number allelic existing to date. These will greatly enrich current knowledge naturally occurring