Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China.
Engineering Research Center of Tibetan Medicine Detection Technology, Ministry of Education, School of Medicine, Xizang Minzu University, Xianyang, 712082, Shaanxi, China.
BMC Genom Data. 2021 Nov 19;22(1):51. doi: 10.1186/s12863-021-00999-8.
The variation of drug responses and target does among individuals is mostly determined by genes. With the development of pharmacogenetics and pharmacogenomics, the differences in drug response between different races seem to be mainly caused by the genetic diversity of pharmacodynamics and pharmacokinetics genes. Very important pharmacogenetic (VIP) variants mean that genes or variants play important and vital roles in drug response, which have been listed in pharmacogenomics databases, such as Pharmacogenomics Knowledge Base (PharmGKB). The information of Chinese ethnic minorities such as the Wa ethnic group is scarce. This study aimed to uncover the significantly different loci in the Wa population in Yunnan Province of China from the perspective of pharmacogenomics, to provide a theoretical basis for the future medication guidance, and to ultimately achieve the best treatment in the future.
In this study, we recruited 200 unrelated healthy Wa adults from the Yunnan province of China, selected 52 VIP variants from the PharmGKB for genotyping. We also compared the genotype frequency and allele distribution of VIP variants between Wa population and the other 26 populations from the 1000 Genomes Project ( http://www.1000Genomes.org/ ). Next, χ test was used to determine the significant points between these populations. The study results showed that compared with the other 26 population groups, five variants rs776746 (CYP3A5), rs4291 (ACE), rs3093105 (CYP4F2), rs1051298 (SLC19A1), and rs1065852 (CYP2D6) had higher frequencies in the Wa population. The genotype frequencies rs4291-TA, rs3093105-CA, rs1051298-AG and rs1065852-GA were higher than those of the other populations, and the allele distributions of rs4291-T and rs3093105-C were significantly different. Additionally, the difference between the Wa ethnic group and East Asian populations, such as CDX, CHB, and CHS, was the smallest.
Our research results show that there is a significant difference in the distribution of VIP variants between the Wa ethnic group and the other 26 populations. The study results will have an effect on supplementing the pharmacogenomics information for the Wa population and providing a theoretical basis for individualised medication for the Wa population.
药物反应和靶标的个体差异主要由基因决定。随着药物遗传学和药物基因组学的发展，不同种族之间药物反应的差异似乎主要是由于药物动力学和药效学基因的遗传多样性所致。非常重要的药物遗传学（VIP）变体意味着基因或变体在药物反应中起着重要和至关重要的作用，这些变体已被列入药物基因组学数据库，如 Pharmacogenomics Knowledge Base（PharmGKB）。关于中国少数民族，如佤族的信息非常有限。本研究旨在从药物基因组学的角度揭示中国云南省佤族人群中显著不同的基因座，为未来的用药指导提供理论依据，并最终在未来实现最佳治疗效果。
本研究共招募了 200 名来自中国云南省的无关健康佤族成年人，从 PharmGKB 中选择了 52 个 VIP 变体进行基因分型。我们还比较了 VIP 变体在佤族人群与 1000 基因组计划（http://www.1000Genomes.org/）中来自其他 26 个人群的基因型频率和等位基因分布。接下来，使用 χ2 检验确定这些人群之间的显著差异点。研究结果表明，与其他 26 个人群相比，5 个变体 rs776746（CYP3A5）、rs4291（ACE）、rs3093105（CYP4F2）、rs1051298（SLC19A1）和 rs1065852（CYP2D6）在佤族人群中的频率较高。基因型频率 rs4291-TA、rs3093105-CA、rs1051298-AG 和 rs1065852-GA 高于其他人群，等位基因分布 rs4291-T 和 rs3093105-C 存在显著差异。此外，佤族与东亚人群（如 CDX、CHB 和 CHS）之间的差异最小。
本研究结果表明，佤族与其他 26 个人群之间 VIP 变体的分布存在显著差异。研究结果将对补充佤族人群的药物基因组学信息以及为佤族人群提供个体化用药的理论依据产生影响。
