越南人群细胞色素P450等位基因的基因分析及表型分布

Pham Ngoc Ha, Nguyen Anh Tuan, Trinh Thi Xuan, Truong Nam Hai, Tran Dang Hung, N. Cuong
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引用次数: 0

摘要

细胞色素P450酶在I期药物代谢中起重要作用,约占酶促过程的75%。本研究利用Stargazer和PharmCAT软件对越南人群中5个CYP基因(CYP2B6、CYP3A5、CYP2C9、CYP2C19、CYP2D6)进行明星等位基因的调用,并基于phargkb数据库将其翻译成表型,研究了越南人群中CYP2B6、CYP3A5、cyp2a9、CYP2D6的等位基因和表型分布。我们将越南种群分布的计算分析与东亚、欧洲、美洲和其他超级种群的分布进行了比较,并与以往的实验研究进行了比较。越南人群中5个重要CYP基因的等位基因频率和表型分布与东亚人群相似,但与其他人群有显著差异。计算机分析也提供了与以往实验研究一致的结果。此外,我们的研究结果有助于建立药物遗传学遗传变异数据库,为今后的基础研究和应用研究奠定基础。
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In silico study of cytochrome P450 alleles and phenotypic distribution in Vietnamese population
Cytochrome P450 enzymes play an important role in phase I drug metabolism, accounting for approximately 75% of the enzymatic processes. We investigated the allele and phenotypic distributions of five important CYP genes (CYP2B6, CYP3A5, CYP2C9, CYP2C19, CYP2D6) in the Vietnamese population by using Stargazer and the PharmCAT tool to call star alleles and translating them into phenotypes based on the available dataset of PharmGKB. We compared our computational analysis of the Vietnamese distributions with those of East Asia, Europe, America and other super populations, as well as with previous experimental research. The allele frequencies and phenotypic distributions of the five important CYP genes in the Vietnamese population are similar to those in East Asia while significantly different from other populations. In silico analysis also provided consistent results with previous experimental studies. In addition, the resultant data from our research contributes to the database of genetic variations in pharmacogenetics and constructs the fundamentals for future basic and applied research. 
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