Zhang Chan, Guo Weiwei, Cheng Yujing, Li Qi, Yang Xin, Dai Run, Zhu Linhao, Chen Wanlu
Department of Blood Transfusion, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.
Department of State-owned Assets Management, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.
Mol Genet Genomic Med. 2019 May;7(5):e574. doi: 10.1002/mgg3.574. Epub 2019 Apr 5.
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. In this study, we genotyped 80 VIP variants from the PharmGKB in 100 members of Blang volunteers from Yunnan province.
Based on the PharmGKB database, we genotyped 80 VIP variants loci located in 47 genes. We used χ 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.
Comparing 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.
Our results will complement the pharmacogenomics information of the Blang ethnic group and provide a theoretical basis for safer drug administration for Blang.
众多药物遗传学研究中的基因多态性被视为参与药物反应或代谢的关键因素。这些被称为非常重要的药物遗传学（VIP）变异体在药物代谢中发挥作用，已在PharmGKB数据库中进行了总结。在本研究中，我们对来自云南省布朗族100名志愿者的80个来自PharmGKB的VIP变异体进行了基因分型。
基于PharmGKB数据库，我们对位于47个基因中的80个VIP变异体位点进行了基因分型。我们使用χ检验来评估布朗族与其他人群（包括ASW、CEU、CHB、CHD、GIH、JPT、LWK、MEX、MKK、TSI和YRI）之间的显著位点。从等位基因频率数据库中观察显著变异体的全球变异分布。然后，我们使用F统计量（Fst）、遗传结构和系统发育树分析来确定12个人群之间的遗传亲和力。
将布朗族与国际人类基因组单体型图计划（HapMap计划）中的其他11个人群进行比较，统计结果显示，核受体亚家族1组I成员2（NR1I2，OMIM编号：603,065）的rs3814055（NC_000003.12:g.119781188C>T）是最显著的变异体，其次是维生素D受体（VDR，OMIM编号：601,769）的rs1540339（NC_000012.12:g.47863543C>T）。此外，我们发现布朗族中rs3814055的基因型频率与苗族分布的人群更为接近。遗传结构和F统计量表明，布朗族与CHD、CHB和JPT人群具有相对更密切的亲和力。此外，陕西汉族与布朗族更为接近。
我们的研究结果将补充布朗族的药物基因组学信息，并为布朗族更安全地用药提供理论依据。
