藏族人群中药物基因组VIP变异体的群体遗传差异
Population Genetic Difference of Pharmacogenomic VIP Variants in the Tibetan Population.
作者信息
He Chunjuan, Peng Linna, Xing Shishi, Li Dandan, Wang Li, Jin Tianbo
机构信息
Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi, 712082, People's Republic of China.
Key Laboratory for Basic Life Science Research of Tibet Autonomous Region, Xizang Minzu University, Xianyang, Shaanxi, 712082, People's Republic of China.
出版信息
Pharmgenomics Pers Med. 2021 Aug 16;14:1027-1040. doi: 10.2147/PGPM.S316711. eCollection 2021.
BACKGROUND
Genetic variation influences drug reaction or adverse prognosis. The purpose of this research was to genotype very important pharmacogenetic (VIP) variants in the Tibetan population.
METHODS AND MATERIALS
Blood samples from 200 Tibetans were randomly collected and 59 VIP variants were genotyped, and then compared our data to 26 other populations in the 1000 project to further analyze and identify significant difference.
RESULTS
The results showed that on comparing with most of the 26 populations from the 1000 project, rs4291 (), rs1051296 () and rs1065852 () significantly differed in the Tibetan population. Furthermore, three significant loci were related to drug response. In addition, the allele frequency of Tibetans least differed from that of East Asian populations, and most differed from that of Americans.
CONCLUSION
Three significant loci of variation rs4291, rs1051296 and rs1065852 were associated with drug response. This result will contribute to improving the information of the Tibetan in the pharmacogenomics database, and providing a theoretical basis for clinical individualised drug use in Tibetans.
背景
基因变异会影响药物反应或不良预后。本研究的目的是对藏族人群中非常重要的药物遗传学（VIP）变异进行基因分型。
方法与材料
随机收集200名藏族人的血样，对59个VIP变异进行基因分型，然后将我们的数据与千人基因组计划中的其他26个群体的数据进行比较，以进一步分析并确定显著差异。
结果
结果显示，与千人基因组计划中的大多数26个群体相比，rs4291（）、rs1051296（）和rs1065852（）在藏族人群中存在显著差异。此外，三个显著位点与药物反应相关。另外，藏族人的等位基因频率与东亚人群的最相似，与美国人的差异最大。
结论
rs4291、rs1051296和rs1065852这三个显著变异位点与药物反应相关。这一结果将有助于完善藏族人群在药物基因组学数据库中的信息，并为藏族人临床个体化用药提供理论依据。
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