Open AccessCYP2D6 gene resequencing in the Malagasy, a population at the crossroads between Asia and Africa: a pilot study
Author(s) -
E. Ricky Chan,
Rajeev K. Mehlotra,
Karim A Pirani,
Arsène Ratsimbasoa,
Scott M. Williams,
Andrea Gaedigk,
Peter A. Zimmerman
Publication year - 2022
Publication title -
pharmacogenomics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.541
H-Index - 91
eISSN - 1744-8042
pISSN - 1462-2416
DOI - 10.2217/pgs-2021-0146
Subject(s) - biology , genetics , plasmodium vivax , haplotype , genotype , malaria , locus (genetics) , amplicon , taqman , concordance , evolutionary biology , primaquine , population , genetic variation , gene , plasmodium falciparum , polymerase chain reaction , chloroquine , demography , immunology , sociology
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.