Characterization of Novel CYP2D6 Alleles across Sub-Saharan African Populations

The CYP2D6 gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain under-represented in these studies. The increasing availability...

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Bibliographic Details
Published in:Journal of personalized medicine 2022-09, Vol.12 (10), p.1575
Main Authors: Wang, Wendy Y., Twesigomwe, David, Nofziger, Charity, Turner, Amy J., Helmecke, Lena-Sophie, Broeckel, Ulrich, Derezinski, Ashley D., Hazelhurst, Scott, Gaedigk, Andrea
Format: Article
Language:English
Subjects:
Alleles
Consortia
CYP2D6 protein
Cytochrome P450
Genes
Genomes
Genotyping
Laboratories
Pharmacogenomics
Phenotypes
Population genetics
Precision medicine
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Summary:The CYP2D6 gene has been widely studied to characterize variants and/or star alleles, which account for a significant portion of variability in drug responses observed within and between populations. However, African populations remain under-represented in these studies. The increasing availability of high coverage genomes from African populations has provided the opportunity to fill this knowledge gap. In this study, we characterized computationally predicted novel CYP2D6 star alleles in 30 African subjects for whom DNA samples were available from the Coriell Institute. CYP2D6 genotyping and resequencing was performed using a variety of commercially available and laboratory-developed tests in a collaborative effort involving three laboratories. Fourteen novel CYP2D6 alleles and multiple novel suballeles were identified. This work adds to the growing catalogue of validated African ancestry CYP2D6 allelic variation in pharmacogenomic databases, thus laying the foundation for future functional studies and improving the accuracy of CYP2D6 genotyping, phenotype prediction, and the refinement of clinical pharmacogenomic implementation guidelines in African and global settings.
ISSN:2075-4426
2075-4426
DOI:10.3390/jpm12101575