Abstract

BackgroundGenetic polymorphisms in numerous pharmacogenetics studies were regarded as the essential factors involved in the response to or metabolism of drugs. These genetic variants called very important pharmacogenetic (VIP) variants played a role in drugs metabolism, which have been summarized in the PharmGKB database. In this study, we genotyped 80 VIP variants from the PharmGKB in 100 members of Blang volunteers from Yunnan province.MethodsBased on the PharmGKB database, we genotyped 80 VIP variants loci located in 47 genes. We used χ2 tests to evaluate the significant loci between Blang and the other populations, including ASW, CEU, CHB, CHD, GIH, JPT, LWK, MEX, MKK, TSI, and YRI. The global variation distribution of the significant variants was observed from the ALlele FREquency Database. And then, we used F‐statistics (Fst), genetic structure, and phylogenetic tree analyses to ascertain the genetic affinity among 12 populations.ResultsComparing the Blang with the other 11 populations from the HapMap Project, the statistical results revealed that rs3814055 (NC_000003.12:g.119781188C>T) of nuclear receptor subfamily 1 group I member 2 (NR1I2, OMIM# 603,065) was the most significant variant, followed by rs1540339 (NC_000012.12:g.47863543C>T) of vitamin D receptor (VDR, OMIM#601,769). Furthermore, we found that genotype frequency of rs3814055 in the Blang was closer to the populations distributed in Miao. And genetic structure and F‐statistics indicated that the Blangs had a relatively closer affinity with CHD, CHB, and JPT populations. In addition, the Han nationality in Shaanxi was closer to it.ConclusionsOur results will complement the pharmacogenomics information of the Blang ethnic group and provide a theoretical basis for safer drug administration for Blang.

Highlights

  • Personalized medicine (Jain, 2009) means selection of a best treatment suited for a person on a comprehensive consideration of each patient's characteristics

  • There is increasing interested in personalized medicine, because of genetic variations leading to each person's different metabolism of and reactions to some drugs

  • The conclusion was that that NR1I2 rs3814055 was the most significant variant among the 12 selected populations, followed by VDR rs1540339

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Summary

Introduction

Personalized medicine (Jain, 2009) means selection of a best treatment suited for a person on a comprehensive consideration of each patient's characteristics. A large number of pharmacogenomics studies focused on genetic variations considered to be involved in response to or metabolism of drugs (Evans & McLeod, 2003). These genetic variations called very important pharmacogenetic (VIP) variants (Peters & McLeod, 2008). Genetic polymorphisms in numerous pharmacogenetics studies were regarded as the essential factors involved in the response to or metabolism of drugs These genetic variants called very important pharmacogenetic (VIP) variants played a role in drugs metabolism, which have been summarized in the PharmGKB database. Genetic structure and F‐statistics indicated that the Blangs had a relatively closer affinity with CHD, CHB, and JPT populations.

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