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

posted on 2022-08-31, 09:08 authored by Ross P Booyse, David Twesigomwe, Scott Hazelhurst

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.


RP Booyse was supported by the University of the Witwatersrand Post Graduate Merit Award. D Twesigomwe was supported by the National Research Foundation of South Africa (grant no. 128895) and by a grant from GlaxoSmithKline Research and Development Ltd. to the Wits Health Consortium. This study used WGS data from the Africa-Wits INDEPTH Partnership for Genomics Research (AWI-Gen) Collaborative Center which is funded by the NIH/NHGRI (grant no. U54HG006938) as part of the Human, Heredity and Health in Africa (H3Africa) Consortium.


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