title: The population genetics of pharmacogenomics VIP variants in the Sherpa population.
abstract: Polymorphic distributions of pharmacogenes among some ethnicities are under-represented in current pharmacogenetic research. Particularly, there is a paucity of pharmacogenetic information in the Sherpa population in Tibet. We used the Sequenom MassARRAY single nucleotide polymorphism (SNP) genotyping technology to detect 86 very important pharmacogene (VIP) variants in Sherpas and compared the genotypic frequencies of these variants with HapMap populations. Overall, 59 of the 60 previously reported variants in the HapMap populations were found in our study. We found minimal differences between populations of Sherpas and Chinese Han in Beijing (CHB), Chinese in Metropolitan Denver, Colorado (CHD), Japanese in Tokyo, Japan (JPT), and Mexicans in Los Angeles, California (MEX) after a strict Bonferroni correction. Only 8, 4, 5, 4 VIP genotypes, respectively, were different in these groups. Additionally, pairwise FST values and clustering analyses showed that the VIP variants in the Sherpa population exhibited a close genetic affinity with the CHB and JPT populations, but they were most similar to the CHD population. Our results contribute to a better understanding of the molecular basis underlying ethnic differences in drug response, which may potentially benefit the development of personalized medicine for the Sherpa population.
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu 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 Minzu University, Xianyang, Shaanxi 712082, China.
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: School of Life Sciences, Northwest University, Xi'an, Shaanxi 710069, China; National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi 710069, China.
authors.forename: Yongchao
authors.initials: Y
authors.lastname: Ren
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu 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 Minzu University, 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 Tibet Autonomous Region, School of Medicine, Xizang Minzu 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 Minzu University, Xianyang, Shaanxi 712082, China.
authors.forename: Dongya
authors.initials: D
authors.lastname: Yuan
authors.affiliation: Tibet Vocational Technical College, Tibet Autonomous Region, Lasa 850000, China.
authors.forename: Kai
authors.initials: K
authors.lastname: Liu
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi 710069, China.
authors.forename: Tingting
authors.initials: T
authors.lastname: Geng
authors.affiliation: National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi 710069, China.
authors.forename: Gang
authors.initials: G
authors.lastname: Li
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu 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 Minzu University, Xianyang, Shaanxi 712082, China. Electronic address: longlikang@126.com.
authors.forename: Longli
authors.initials: L
authors.lastname: Kang
authors.affiliation: Key Laboratory of High Altitude Environment and Genes Related to Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu 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 Minzu University, Xianyang, Shaanxi 712082, China; School of Life Sciences, Northwest University, Xi'an, Shaanxi 710069, China; National Engineering Research Center for Miniaturized Detection Systems, Xi'an, Shaanxi 710069, China. Electronic address: tianbojinprofessor@163.com.
authors.forename: Tian-Bo
authors.initials: TB
authors.lastname: Jin
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D000068476:Beijing; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population / Q000379:methods; D015894:Genome, Human / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D008297:Male; D010597:Pharmacogenetics / Q000379:methods; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
keywords: Clustering analyses; Ethnic difference; Pairwise F(ST) values; Pharmacogenomics; Sherpa; VIP variants