Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Pharmacogenomics. 2023 Nov;24(16):845-857. doi: 10.2217/pgs-2023-0166. Epub 2023 Nov 6.
is important in the metabolism of clopidogrel and several antidepressants. This study aimed to characterize the distribution of star alleles (haplotypes) across diverse African populations compared with global populations. star alleles and diplotypes were called from high coverage genomes using the StellarPGx pipeline. (51%), (17%) and (22%) were the most common star alleles across African populations in this study. It was observed that 3% of African participants had potentially novel haplotypes. This study supports the necessity for pharmacogenetic testing in African and global clinical settings, as well as the importance of comprehensive star allele characterization in the African context.
CYP2C19 基因中的多态性star等位基因(单倍型)在氯吡格雷和几种抗抑郁药的代谢中很重要。本研究旨在比较不同非洲人群与全球人群中star等位基因(单倍型)的分布特征。使用 StellarPGx 管道从高覆盖率基因组中调用star等位基因和二倍型。在本研究中,star等位基因在非洲人群中最常见的是*(51%)、(17%)和(22%)。观察到 3%的非洲参与者可能具有新的haplotype。本研究支持在非洲和全球临床环境中进行药物遗传学检测的必要性,以及在非洲背景下全面star等位基因特征描述的重要性。