Characterization of POR haplotype distribution in African populations and comparison with other global populations: Supplementary tables

Background & aim: POR is an enzyme that mediates electron transfer to enable the drug-metabolizing
activity of CYP450 proteins. However, POR has been understudied in pharmacogenomics despite this vital
role. The authors aimed to characterize the genetic variation in POR across African populations and
to compare the star allele (haplotype) distribution with that in other global populations. Materials &
methods: POR star alleles were called from whole-genome sequencing data using the StellarPGx pipeline.
Results: In addition to the common POR*1 and *28 haplotypes (defined by rs1057868), five novel rare
haplotypes were computationally inferred. No significant frequency differences were observed among
the majority of African populations. However, POR*28 was observed at a higher frequency in individuals
of non-African ancestry. Conclusion: This study highlights the distribution of POR alleles in Africa and
across global populations with a view toward informing future precision medicine implementation.

背景与目的：多药氧化酶（POR）是一种介导电子转移的酶，该酶能够激活CYP450蛋白的药物代谢活性。尽管POR在生理过程中扮演着至关重要的角色，但在药物基因组学领域，其对研究一直处于被忽视的状态。本研究旨在描述非洲人群中的POR基因变异情况，并比较其优势等位基因（基因型）在全球其他人群中的分布。材料与方法：利用StellarPGx管道从全基因组测序数据中提取POR优势等位基因。结果：除了常见的POR*1和*28基因型（由rs1057868定义）外，通过计算推理还发现了五种新的罕见基因型。在大多数非洲人群中，未观察到显著频率差异。然而，在非非洲血统的个人中，POR*28的频率较高。结论：本研究突出了非洲及全球人群中POR等位基因的分布情况，旨在为未来精准医疗的实施提供信息。