CYP2C19在非洲人群中的药物遗传变异特征及其与其他全球人群的比较。

IF 1.9 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics Pub Date : 2023-11-01 Epub Date: 2023-11-06 DOI:10.2217/pgs-2023-0166
Ross P Booyse, David Twesigomwe, Scott Hazelhurst
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引用次数: 0

摘要

背景:CYP2C19在氯吡格雷和几种抗抑郁药的代谢中起重要作用。本研究旨在与全球人群相比,描述CYP2C19星形等位基因(单倍型)在不同非洲人群中的分布。方法:使用StellarPGx流水线从高覆盖率基因组中调用CYP2C19星形等位基因和二倍体。结果:CYP2C19*1(51%)、*2(17%)和*17(22%)是本研究中非洲人群中最常见的星形等位基因。据观察,3%的非洲参与者具有潜在的新型CYP2C19单倍型。结论:本研究支持在非洲和全球临床环境中进行CYP2C19药物遗传学检测的必要性,以及在非洲背景下进行全面的星形等位基因鉴定的重要性。
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Characterization of CYP2C19 pharmacogenetic variation in African populations and comparison with other global populations.

Background: CYP2C19 is important in the metabolism of clopidogrel and several antidepressants. This study aimed to characterize the distribution of CYP2C19 star alleles (haplotypes) across diverse African populations compared with global populations. Methods: CYP2C19 star alleles and diplotypes were called from high coverage genomes using the StellarPGx pipeline. Results: CYP2C19*1 (51%), *2 (17%) and *17 (22%) were the most common star alleles across African populations in this study. It was observed that 3% of African participants had potentially novel CYP2C19 haplotypes. Conclusion: This study supports the necessity for CYP2C19 pharmacogenetic testing in African and global clinical settings, as well as the importance of comprehensive star allele characterization in the African context.

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来源期刊
Pharmacogenomics
Pharmacogenomics 医学-药学
CiteScore
3.40
自引率
9.50%
发文量
88
审稿时长
4-8 weeks
期刊介绍: Pharmacogenomics (ISSN 1462-2416) is a peer-reviewed journal presenting reviews and reports by the researchers and decision-makers closely involved in this rapidly developing area. Key objectives are to provide the community with an essential resource for keeping abreast of the latest developments in all areas of this exciting field. Pharmacogenomics is the leading source of commentary and analysis, bringing you the highest quality expert analyses from corporate and academic opinion leaders in the field.
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