title: Genetic polymorphisms and phenotypic analysis of drug-metabolizing enzyme CYP2C19 in a Li Chinese population.
abstract: CYP2C19 is a highly polymorphic gene and CYP2C19 enzyme results in broad inter-individual variability in response to certain clinical drugs, while little is known about the genetic variation of CYP2C19 in Li Chinese population. The aim of this study was to identify different CYP2C19 mutant alleles and determine their frequencies, along with genotype frequencies, in the Li Chinese population. We used DNA sequencing to investigate promoter, exons, introns, and 3'UTR of the CYP2C19 gene in 100 unrelated healthy Li individuals from Hainan Province, China. We also used SIFT and PolyPhen-2 to predict the protein function of the non-synonymous mutation in CYP2C19 coding regions. We identified 22 different CYP2C19 polymorphisms in the Li Chinese population, including three novel variants (-254A > G, 17807T > C and 58025C > T). The allele frequencies of CYP2C19*1A, *1B, *2A and *3A were 50%, 24%, 24.5%, and 1.5%, respectively. The most common genotype combinations were *1A/*1B (48%) and *1A/*2A (49%). Additionally, the mutation Ala161Pro was predicted to be intolerant and possibly damaging by SIFT and PolyPhen-2, respectively. Our results shed new light on CYP2C19 polymorphisms in Li individuals, which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Yipeng
authors.initials: Y
authors.lastname: Ding
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Dongchuan
authors.initials: D
authors.lastname: Xu
authors.affiliation: School of Life Sciences, Northwest University Xi'an 710069, Shaanxi, China.
authors.forename: Xiyang
authors.initials: X
authors.lastname: Zhang
authors.affiliation: School of Life Sciences, Northwest University Xi'an 710069, Shaanxi, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Yang
authors.affiliation: Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University School of Medicine Xi'an 710061, Shaanxi, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Geng
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Ping
authors.initials: P
authors.lastname: He
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Jinjian
authors.initials: J
authors.lastname: Yao
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Shengyang
authors.initials: S
authors.lastname: Yi
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Heping
authors.initials: H
authors.lastname: Xu
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Duoyi
authors.initials: D
authors.lastname: Wu
authors.affiliation: Department of Emergency, People's Hospital of Hainan Province Haikou 570311, Hainan, R. R. China.
authors.forename: Xiang
authors.initials: X
authors.lastname: Wang
authors.affiliation: School of Life Sciences, Northwest University Xi'an 710069, Shaanxi, China ; Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Tibet University for Nationalities Xianyang 712082, Shaanxi, China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D065731:Cytochrome P-450 CYP2C19 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C045793:CYP2C19 protein, human; D065731:Cytochrome P-450 CYP2C19
keywords: CYP2C19; Genetic polymorphism; Li Chinese population; ethnic groups