Document Type
Article
Publication Date
4-2022
Identifier
DOI: 10.2217/pgs-2021-0146; PMCID: PMC8965795
Abstract
Background: Plasmodium vivax malaria is endemic in Madagascar, where populations have genetic inheritance from Southeast Asia and East Africa. Primaquine, a drug of choice for vivax malaria, is metabolized principally via CYP2D6. CYP2D6 variation was characterized by locus-specific gene sequencing and was compared with TaqMan™ genotype data. Materials & methods: Long-range PCR amplicons were generated from 96 Malagasy samples and subjected to next-generation sequencing. Results: The authors observed high concordance between TaqMan™-based CYP2D6 genotype calls and the base calls from sequencing. In addition, there are new variants and haplotypes present in the Malagasy. Conclusion: Sequencing unique admixed populations provides more detailed and accurate insights regarding CYP2D6 variability, which may help optimize primaquine treatment across human genetic diversity.
Journal Title
Pharmacogenomics
Volume
23
Issue
5
First Page
315
Last Page
325
MeSH Keywords
Africa; Antimalarials; Asia; Cytochrome P-450 CYP2D6; Humans; Pilot Projects; Primaquine
Keywords
CYP2D6; Madagascar; Plasmodium vivax; malaria treatment; next-generation sequencing; primaquine
Recommended Citation
Chan ER, Mehlotra RK, Pirani KA, et al. CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study. Pharmacogenomics. 2022;23(5):315-325. doi:10.2217/pgs-2021-0146
Comments
Grant support
This work is licensed under the Creative Commons Attribution 4.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Publisher's Link: https://doi.org/10.2217/pgs-2021-0146