CYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study

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.