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

Pharmacogenomics. 2023 Nov;24(16):845-857. doi: 10.2217/pgs-2023-0166. Epub 2023 Nov 6.

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.

Keywords: African populations; CYP2C19; StellarPGx; diplotypes; haplotypes; pharmacogenomics; phenotypes; star alleles.

MeSH terms

  • Alleles
  • Clopidogrel / therapeutic use
  • Cytochrome P-450 CYP2C19 / genetics
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Pharmacogenetics*
  • Platelet Aggregation Inhibitors*

Substances

  • Cytochrome P-450 CYP2C19
  • Clopidogrel
  • Platelet Aggregation Inhibitors
  • CYP2C19 protein, human