title: Cytochrome P450 2C9 (CYP2C9) polymorphisms in Chinese Li population.
abstract: BACKGROUND
  The frequencies of Cytochrome P450 2C9 (CYP2C9) genotypes were various between populations. The aim of this study was to investigate the frequencies of the major variants of the CYP2C9 in Chinese Li minority populations.
  
  
  METHODS
  The promoter, exons and surrounding introns, and 3'-untranslated region of the CYP2C9 gene was detected by DNA sequencing to investigate in 100 unrelated healthy Chinese Li subjects. The protein function prediction was used the online tools: Sorting Intolerant From Tolerant (SIFT) and Phenotyping Version 2 (PolyPhen-2). The comparison of CYP2C9 allele frequencies in different populations were analyzed by Chi-square (χ(2)) test. Linkage disequilibrium (LD) analysis was performed using Haploview software.
  
  
  RESULTS
  We identified 17 different CYP2C9 single nucleotide polymorphisms (SNPs) in the Li population, including two missense mutations (3549 G > A and 42614 A > C) and two silent mutations (3514 T > Cand 50298A > T). The protein function prediction revealed the two missense mutations result in protein damaging. In addition, we detected the allele frequencies of CYP2C9*1, CYP2C9*3 and CYP2C9*42 were 98%, 1%, and 1%, respectively. Finally, we compared three major allelic frequency (CYP2C9*1, CYP2C9*2, and CYP2C9*3) between Li and other populations. We found that our results were similar to East Asians and Africans.
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Yipeng
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Respiratory and Critical Care Medicine, Tongji Hospital, Key Laboratory of Pulmonary Diseases of Health MinistryWuhan 430030, China; Huazhong University of Science and Technology1095 Jiefang Dadao Road, Wuhan 430030, China.
authors.forename: Danlei
authors.initials: D
authors.lastname: Yang
authors.affiliation: School of Life Sciences, Northwest University Xi'an 710069, China.
authors.forename: Long
authors.initials: L
authors.lastname: Zhou
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Ping
authors.initials: P
authors.lastname: He
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Jinjian
authors.initials: J
authors.lastname: Yao
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Pingdong
authors.initials: P
authors.lastname: Xie
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Daobo
authors.initials: D
authors.lastname: Lin
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Dingwei
authors.initials: D
authors.lastname: Sun
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Pei
authors.initials: P
authors.lastname: Sun
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, China.
authors.forename: Quanni
authors.initials: Q
authors.lastname: Li
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems Xi'an 710069, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Geng
authors.affiliation: School of Life Sciences, Northwest UniversityXi'an 710069, China; National Engineering Research Center for Miniaturized Detection SystemsXi'an 710069, China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
keywords: CYP2C9; CYP2C9*1; CYP2C9*3; CYP2C9*42; Chinese Li minority populations; allele frequencies