Genetic Variability of CYP4F2, CYP2D6, CYP2E1, and ACE in the Chinese Yi Population.

IF 2.1 4区 生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY Biochemical Genetics Pub Date : 2024-06-08 DOI:10.1007/s10528-024-10748-y
Jinping Guo, Wenqian Zhou, Xiaoya Ma, Yujie Li, Huan Zhang, Jie Wei, Shuli Du, Tianbo Jin
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Abstract

Genetic polymorphisms of very important pharmacogenes (VIP) are a significant factor contributing to inter-individual variability in drug therapy. The purpose of this study was to identify significantly different loci in the Yi population and to enrich their pharmacogenomic information. 54 VIP variants were selected from the Pharmacogenomics Knowledge Base (PharmGKB) and genotyped in 200 Yi individuals. Then, we compared their genotype distribution between the Yi population and the other 26 populations using the χ2 test. Compared with the other 26 populations, the genotype frequencies of 4 single nucleotide polymorphisms (SNPs), rs2108622 (CYP4F2), rs1065852 (CYP2D6), rs2070676 (CYP2E1), and rs4291 (ACE), had significant differences in the Yi population. For example, the TT genotype frequency of rs2108622 (8.1%) was higher than that of African populations, and the AA genotype frequency of rs1065852 (27.3%) was higher than that of other populations except East Asians. We also found that the Yi populations differed the least from East Asians and the most from Africans. Furthermore, the differences in these variants might be related to the effectiveness and toxicity risk of using warfarin, iloperidone, cisplatin cyclophosphamide, and other drugs in the Yi population. Our data complement the pharmacogenomic information of the Yi population and provide theoretical guidance for their personalized treatment.

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中国彝族人群中 CYP4F2、CYP2D6、CYP2E1 和 ACE 的遗传变异。
非常重要的药物基因(VIP)的遗传多态性是导致药物治疗个体间差异的一个重要因素。本研究旨在确定彝族人群中存在显著差异的基因位点,并丰富其药物基因组学信息。我们从药物基因组学知识库(PharmGKB)中选取了 54 个 VIP 变异位点,并对 200 名彝族个体进行了基因分型。然后,我们用χ2检验比较了彝族人群和其他26个人群的基因型分布。与其他 26 个人群相比,彝族人群中 rs2108622(CYP4F2)、rs1065852(CYP2D6)、rs2070676(CYP2E1)和 rs4291(ACE)这 4 个单核苷酸多态性(SNPs)的基因型频率有显著差异。例如,rs2108622 的 TT 基因型频率(8.1%)高于非洲人群,rs1065852 的 AA 基因型频率(27.3%)高于除东亚人以外的其他人群。我们还发现,彝族与东亚人的差异最小,而与非洲人的差异最大。此外,这些变异的差异可能与彝族人群使用华法林、伊洛哌酮、顺铂环磷酰胺等药物的有效性和毒性风险有关。我们的数据补充了彝族人群的药物基因组学信息,为彝族人群的个性化治疗提供了理论指导。
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来源期刊
Biochemical Genetics
Biochemical Genetics 生物-生化与分子生物学
CiteScore
3.90
自引率
0.00%
发文量
133
审稿时长
4.8 months
期刊介绍: Biochemical Genetics welcomes original manuscripts that address and test clear scientific hypotheses, are directed to a broad scientific audience, and clearly contribute to the advancement of the field through the use of sound sampling or experimental design, reliable analytical methodologies and robust statistical analyses. Although studies focusing on particular regions and target organisms are welcome, it is not the journal’s goal to publish essentially descriptive studies that provide results with narrow applicability, or are based on very small samples or pseudoreplication. Rather, Biochemical Genetics welcomes review articles that go beyond summarizing previous publications and create added value through the systematic analysis and critique of the current state of knowledge or by conducting meta-analyses. Methodological articles are also within the scope of Biological Genetics, particularly when new laboratory techniques or computational approaches are fully described and thoroughly compared with the existing benchmark methods. Biochemical Genetics welcomes articles on the following topics: Genomics; Proteomics; Population genetics; Phylogenetics; Metagenomics; Microbial genetics; Genetics and evolution of wild and cultivated plants; Animal genetics and evolution; Human genetics and evolution; Genetic disorders; Genetic markers of diseases; Gene technology and therapy; Experimental and analytical methods; Statistical and computational methods.
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