title: Genetic polymorphisms analysis of drug-metabolizing enzyme CYP2C9 in the Uyghur population.
abstract: Genetic variations in cytochrome P450 2C9 are known to contribute to interindividual and interethnic variability in response to clinical drugs, but little is known about the genetic variation of CYP2C9 in the Uyghur population. We directly sequenced the whole CYP2C9 gene in 96 unrelated, healthy Uyghur from Xinjiang Uygur Autonomous Region of China and screened for genetic variants in the promoter, exons, introns and 3'-UTR. Thirty five previously reported alleles and six genotypes were detected in this study. The allele frequencies of CYP2C9*1, *2, *11, *12, *29 and *33 were 89.58, 7.81, 0.52, 0.52, 1.04 and 0.52%, respectively. We detected one non-synonymous novel variant at position 329 from Arg to Cys and this mutation is predicted to be intolerant by SIFT. Our results provide basic information about CYP2C9 alleles in Uyghur, which may help to optimize pharmacotherapy effectiveness by providing personalized medicine to this ethnic group.
authors.affiliation: a Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine , Xizang Minzu University , Xianyang, Shaanxi , China .|b Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine , Xizang Minzu University , Xianyang, Shaanxi , China .|c School of Life Sciences , Northwest University , Xi'an, Shaanxi , China , and.|d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
authors.affiliation: c School of Life Sciences , Northwest University , Xi'an, Shaanxi , China , and.|d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Xiaojie
authors.initials: X
authors.lastname: Xun
authors.affiliation: c School of Life Sciences , Northwest University , Xi'an, Shaanxi , China , and.|d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Shuli
authors.initials: S
authors.lastname: Du
authors.affiliation: d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Geng
authors.affiliation: d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Hong
authors.initials: H
authors.lastname: Wang
authors.affiliation: d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Tian
authors.initials: T
authors.lastname: Feng
authors.affiliation: d National Engineering Research Center for Miniaturized Detection Systems , Xi'an, Shaanxi , China.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.affiliation: a Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine , Xizang Minzu University , Xianyang, Shaanxi , China .|b Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine , Xizang Minzu University , Xianyang, Shaanxi , China .
authors.forename: Dongya
authors.initials: D
authors.lastname: Yuan
authors.affiliation: a Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, School of Medicine , Xizang Minzu University , Xianyang, Shaanxi , China .|b Key Laboratory for Molecular Genetic Mechanisms and Intervention Research on High Altitude Disease of Tibet Autonomous Region, School of Medicine , Xizang Minzu University , Xianyang, Shaanxi , China .
authors.forename: Longli
authors.initials: L
authors.lastname: Kang
mesh_terms: D044466:Asian People; D002681:China; D065729:Cytochrome P-450 CYP2C9 / Q000235:genetics*; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D011110:Polymorphism, Genetic
chemical_list: D065729:Cytochrome P-450 CYP2C9
keywords: CYP2C9; Uyghur; genetic polymorphism; genotype