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 a...

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Detalles Bibliográficos
Autores principales: Chan, E Ricky, Mehlotra, Rajeev K, Pirani, Karim A, Ratsimbasoa, Arsene C, Williams, Scott M, Gaedigk, Andrea, Zimmerman, Peter A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Future Medicine Ltd 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8965795/
https://www.ncbi.nlm.nih.gov/pubmed/35230160
http://dx.doi.org/10.2217/pgs-2021-0146
Descripción
Sumario: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.

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