title: Genetic polymorphisms of pharmacogenomic VIP variants in the lhoba population of southwest China.
abstract: BACKGROUND
  It is well-established that differences among ethnic groups in drug responses are primarily due to the genetic diversity of pharmacogenes. A number of genes or variants that play a crucial role in drug responses have been designated Very Important Pharmacogenes (VIP) by the PharmGKB database. Clarifying the polymorphic distribution of VIPs in different ethnic groups will aid in personalized medicine for specific populations.
  
  
  METHODS
  We sequenced 85 VIP variants in the Lhoba population based on the PharmGKB database. The polymorphic distribution of the 85 VIP variants in 100 Lhoba subjects was determined and compared with that of 11 major HapMap populations, including ASW, CEU, CHB, CHD, GIH, JPT, LWK, MEX, MKK, TSI, and YRI. We used χ(2) tests to identify significantly different loci between these populations. We downloaded SNP allele frequencies from the ALlele FREquency Database to observe the global genetic variation distribution for these specific loci. And then we used Structure software to perform the genetic structure analysis of 12 populations.
  
  
  RESULTS
  Based on comparisons of selected available loci, we found that 23, 28, 16, 10, 20, 16, 24, 19, 22, 21 and 36 of the selected VIP variant genotype frequencies in the Lhoba population differed from those of the ASW, CEU, CHB, CHD, GIH, JPT, LWK, MEX, MKK, TSI, and YRI populations, respectively. In addition, Pairwise FST values and clustering analyses also showed the VIP variants in Lhoba exhibited a close genetic affinity with CHD, CHB and JPT populations.
  
  
  CONCLUSIONS
  Our results complement pharmacogenomic data on the Lhoba ethnic group and may be helpful in the diagnosis of certain diseases in minorities.
authors.affiliation: Key Laboratory for Basic Life Science Research 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: Yongjun
authors.initials: Y
authors.lastname: He
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: Hua
authors.initials: H
authors.lastname: Yang
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: Tian
authors.initials: T
authors.lastname: Feng
authors.affiliation: Key Laboratory for Basic Life Science Research 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: Key Laboratory for Basic Life Science Research 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: Longli
authors.initials: L
authors.lastname: Kang
authors.affiliation: Department of Blood Transfusion, Second People's Hospital Kunming 650021, Yunnan Province, China.
authors.forename: Manling
authors.initials: M
authors.lastname: Luo
authors.affiliation: Key Laboratory for Basic Life Science Research 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.
authors.forename: Tianbo
authors.initials: T
authors.lastname: Jin
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D005006:Ethnicity; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D010597:Pharmacogenetics
keywords: Genetic polymorphism; Lhoba; VIP variants; pharmacogenomics