title: Genetic polymorphisms analysis of CYP2D6 in the Uygur population.
abstract: This study aimed to investigate genetic polymorphisms of CYP2D6 among healthy Uygur individuals. Genetic polymorphisms of CYP2D6 could greatly affect CYP2D6 activity and lead to differences among individuals in drug efficacy or side effects. To investigate genetic polymorphisms of CYP2D6 in the Uygur population, we directly sequenced the whole gene in 96 unrelated, healthy Uygur volunteers from the Xinjiang Uygur Autonomous Region and screened for genetic variants in the promoter, intron, exons, and 3'UTR.
  
  
  
  We detected 62 genetic polymorphisms of CYP2D6, 16 of which were novel SNP with three novel non-synonymous mutations detected for the first time. The allelic frequencies of CYP2D6*1, *10, *39, and *48 were 0.542, 0.156, 0.068, 0.229, and 0.073, respectively. The frequency of CYP2D6*1/*10 which decreased CYP2D6 enzyme activity was 31.3 %.
  
  
  
  Our results provided basic information about CYP2D6 polymorphisms, suggested that the enzymatic activities of CYP2D6 might be different within the Uygur ethnic group, and provide a basis for safer drug administration and better therapeutic treatment of Uygur individuals.
authors.affiliation: Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.|Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Xue
authors.initials: X
authors.lastname: He
authors.affiliation: Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.|Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Na
authors.initials: N
authors.lastname: He
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, China.
authors.forename: Lisong
authors.initials: L
authors.lastname: Ren
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, China.
authors.forename: Yongri
authors.initials: Y
authors.lastname: Ouyang
authors.affiliation: Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.|Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, China.
authors.forename: Yini
authors.initials: Y
authors.lastname: Ma
authors.affiliation: Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.|Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Dongya
authors.initials: D
authors.lastname: Yuan
authors.affiliation: Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.|Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China.
authors.forename: Longli
authors.initials: L
authors.lastname: Kang
authors.affiliation: Key Laboratory for Basic life science Research of Tibet autonomous region School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China. jintianbo@gmail.com.|Key laboratory for molecular genetic mechanisms and intervention research on high altitude disease of Tibet autonomous region, School of Medicine, Xizang Mingzu University, Xianyang, Shaanxi, 712082, China. jintianbo@gmail.com.|National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi, 710069, China. jintianbo@gmail.com.|School of Life Sciences, Northwest University, Xi'an, Shaanxi, 710069, China. jintianbo@gmail.com.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
mesh_terms: D000483:Alleles; D002681:China; D019389:Cytochrome P-450 CYP2D6 / Q000737:chemistry / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation
chemical_list: D019389:Cytochrome P-450 CYP2D6
keywords: Frequency; Genetic polymorphisms; Phenotypic