title: Genetic polymorphism analysis of the drug-metabolizing enzyme CYP2C9 in a Chinese Tibetan population.
abstract: OBJECTIVE
  The enzymatic activity of CYP2C9 results in broad inter-individual variability in response to certain pharmacotherapies. The present study aimed to screen Tibetan volunteers for CYP2C9 genetic polymorphisms. Previous research has focused on Han Chinese patients, while little is known about the genetic variation of CYP2C9 in Tibetan populations.
  
  
  METHODS
  We used DNA sequencing to investigate the promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene in 96 unrelated healthy Tibetan individuals.
  
  
  RESULTS
  We identified 26 different CYP2C9 polymorphisms in the Tibetan population, including two novel variants detected in exon 9 (50193G>A and 50197G>C). In addition, we determined the allele frequencies of CYP2C9*1 and *3 were 93.75% and 5.73%, respectively. The rare CYP2C9*55 allele was also found in 0.52% of the study population.
  
  
  CONCLUSIONS
  Our results provide information on CYP2C9 polymorphisms in Tibetan individuals, which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; School of Life Sciences, Northwest University, Xi'an, Shaanxi 710069, China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an, Shaanxi 710061, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Geng
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China.
authors.forename: Na
authors.initials: N
authors.lastname: He
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China.
authors.forename: Xugang
authors.initials: X
authors.lastname: Shi
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China.
authors.forename: Dongya
authors.initials: D
authors.lastname: Yuan
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China; Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Diseases of the Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities, Xianyang, Shaanxi 712082, China. Electronic address: klongli@163.com.
authors.forename: Longli
authors.initials: L
authors.lastname: Kang
mesh_terms: D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D018609:Tibet
chemical_list: C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9
keywords: CYP2C9; Ethnic groups; Genetic polymorphism; Tibetan populations