Characterization of CYP2C19 pharmacogenetic variation in African populations and comparison with other global populations

Author:

Booyse Ross P1ORCID,Twesigomwe David12ORCID,Hazelhurst Scott23ORCID

Affiliation:

1. Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

2. Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa

3. School of Electrical & Information Engineering, University of the Witwatersrand, Johannesburg, South Africa

Abstract

Background: CYP2C19 is important in the metabolism of clopidogrel and several antidepressants. This study aimed to characterize the distribution of CYP2C19 star alleles (haplotypes) across diverse African populations compared with global populations. Methods: CYP2C19 star alleles and diplotypes were called from high coverage genomes using the StellarPGx pipeline. Results: CYP2C19*1 (51%), *2 (17%) and *17 (22%) were the most common star alleles across African populations in this study. It was observed that 3% of African participants had potentially novel CYP2C19 haplotypes. Conclusion: This study supports the necessity for CYP2C19 pharmacogenetic testing in African and global clinical settings, as well as the importance of comprehensive star allele characterization in the African context.

Publisher

Future Medicine Ltd

Subject

Pharmacology,Genetics,Molecular Medicine

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