Characterisation of variation in the CYP2C19 gene in African populations

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dc.contributor.authorBooyse, Ross Peter
dc.date.accessioned2024-02-22T12:28:26Z
dc.date.available2024-02-22T12:28:26Z
dc.date.issued2024
dc.descriptionA research report submitted in partial fulfilment of the requirement for the degree of Master of Science in Medicine (Genomic Medicine) to the Faculty of Health Sciences, University of the Witwatersrand, School of Pathology, Johannesburg, 2023
dc.description.abstractBackground: CYP2C19 pharmacogenetic testing is important clinically to optimise patient response to clopidogrel and anti-depressants. This study aimed to characterise the distribution of CYP2C19 star alleles (haplotypes) across diverse African populations compared with global populations, with a view towards informing future pharmacogenetic implementations. Methods: CYP2C19 star alleles and diplotypes were called from 604 high coverage genomes from continental African populations using the StellarPGx pipeline. Results: From our analysis, CYP2C19*1 (51%), *2 (17%), and *17 (22%) were the most common star alleles across African populations in this study. We also identified 3% of African participants that had potentially novel CYP2C19 haplotypes. Over 70% of the SSA participants had either poor, intermediate, rapid, and ultrarapid metabolizer status, and would likely benefit from dosage and/or treatment alterations, especially for clopidogrel Conclusion: This study supports the necessity for CYP2C19 pharmacogenetic testing in African clinical settings and the importance of comprehensive star allele characterisation in the African context.
dc.description.librarianTL (2024)
dc.description.sponsorshipWits University for the Postgraduate Merit Award
dc.facultyFaculty of Health Sciences
dc.identifier.urihttps://hdl.handle.net/10539/37696
dc.language.isoen
dc.schoolSchool of Pathology
dc.subjectCytochrome
dc.subjectStar alleles
dc.subjectStellarPGx pharmacogenomics
dc.subject.otherSDG-3: Good health and well-being
dc.titleCharacterisation of variation in the CYP2C19 gene in African populations
dc.typeDissertation
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