分析非洲人群的单体型分布特征，并与其他全球人群进行比较。
Characterization of haplotype distribution in African populations and comparison with other global populations.
机构信息
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.
出版信息
Pharmacogenomics. 2022 Sep;23(14):771-782. doi: 10.2217/pgs-2022-0082. Epub 2022 Aug 31.
POR is an enzyme that mediates electron transfer to enable the drug-metabolizing activity of CYP450 proteins. However, has been understudied in pharmacogenomics despite this vital role. This study aimed to characterize the genetic variation in across African populations and to compare the star allele (haplotype) distribution with that in other global populations. star alleles were called from whole-genome sequencing data using the StellarPGx pipeline. In addition to the common and (defined by rs1057868), five novel rare haplotypes were computationally inferred. No significant frequency differences were observed among the majority of African populations. However, was observed at a higher frequency in individuals of non-African ancestry. This study highlights the distribution of alleles in Africa and across global populations with a view toward informing future precision medicine implementation.
POR 是一种酶，可介导电子转移，从而使 CYP450 蛋白发挥药物代谢活性。然而，尽管 POR 具有重要作用，但在药物基因组学领域的研究却相对较少。本研究旨在对非洲人群中的 POR 基因多态性进行特征分析，并比较其星号等位基因（单倍型）的分布与其他全球人群的分布。使用 StellarPGx 管道从全基因组测序数据中调用 STAR 等位基因。除了常见的 rs1057868 等位基因（定义为 rs1057868）和 以外，还通过计算推断出五个新的罕见单倍型。在大多数非洲人群中，没有观察到明显的频率差异。然而，在非非洲血统的个体中， 观察到更高的频率。本研究强调了非洲和全球人群中 STAR 等位基因的分布，以期为未来的精准医学实施提供信息。
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