ArticleMalaria journal2018
Real time PCR detection of common CYP2D6 genetic variants and its application in a Karen population study.
Article in Malaria journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 35 citations in OpenAlex.
- Trial
- Factors affecting haemoglobin dynamics in African children with acute uncomplicated Plasmodium falciparum malaria treated with single low-dose primaquine or placebo.BMC medicine · 2023Trial
- Determinants of Primaquine and Carboxyprimaquine Exposures in Children and Adults with Plasmodium vivax Malaria.Antimicrobial agents and chemotherapy · 2021Trial
- A de novo algorithm for allele reconstruction from Oxford nanopore amplicon reads, with application to CYP2D6.Bioinformatics (Oxford, England) · 2026Article
- Enhancing CYP2D6 genotyping with nanopore sequencing to address allele diversity P. vivax malaria elimination.Scientific reports · 2025Article
- Efficacy of Primaquine for the Radical Cure of Plasmodium vivax Malaria in Northeast Myanmar and the Impact of Cytochrome P450 2D6 Genotypes.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2025Article
- Introduction of new alternative pipeline using multiplexed fast COLD‑PCR together with sequencing approach highlighting pharmacoeconomics by detection ofBiomedical reports · 2022Article
- A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms inPharmaceuticals (Basel, Switzerland) · 2022Article
- Global perspectives onFrontiers in pharmacology · 2022Review
- Development of weight and age-based dosing of daily primaquine for radical cure of vivax malaria.Malaria journal · 2021Article
- Detecting pathogenic bacterial wilt disease of potato using biochemical markers and evaluate resistant in some cultivars.Saudi journal of biological sciences · 2021Article
- A Review of the Important Role ofGenes · 2020Review
- Prevalence of CYP2D6 Genotypes and Predicted Phenotypes in a Cohort of Cambodians at High Risk for Infections withThe American journal of tropical medicine and hygiene · 2020Article
- Multiple relapses of Plasmodium vivax malaria acquired from West Africa and association with poor metabolizer CYP2D6 variant: a case report.BMC infectious diseases · 2019Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundPlasmodium vivax malaria is characterized by relapses arising from the hypnozoite stages in the liver. The only currently registered drug for radical treatment to prevent relapse is primaquine. Primaquine, a prodrug, requires metabolism through the liver cytochrome CYP2D6 isoenzyme to its active metabolite. Mutations in the CYP2D6 gene may thus affect primaquine efficacy. A SNPs genotyping technique was developed to characterize the CYP2D6 genetic variants and tested this in the patients with Plasmodium vivax infection collected in a Karen population on the Thailand-Myanmar border, where P. vivax malaria is endemic.
methodsDirect sequencing of PCR-reamplified products (DSP) was used to uncover exonic CYP2D6 sequence variations. Subsequently, an allele-specific oligonucleotide probe real-time SNPs genotyping (ASO) assay was developed for rapid detection of the four clinically relevant CYP2D6 variants occurring in this population. These two in-house developed assays were used to genotype CYP2D6 mutations in blood samples obtained from 70 Karen adults.
resultsResults showed a high degree of concordance between the DSP and ASO methods. Six CYP2D6 point mutations were identified within the Karen population: C100T, C1039T, G1661C, G1846A, C2850T and G4180C, at frequencies of 0.43, 0.43, 0.76, 0.02, 0.32 and 0.76, respectively. The CYP2D6*2, *4, *5, *10 and *36 allelic frequencies were 0.33, 0.02, 0.03, 0.40 and 0.01, respectively. Alleles conferring an intermediate CYP2D6 metabolizer phenotype comprised 46% of the total number of alleles.
conclusionThe newly developed ASO assay is a reliable and rapid tool for large-scale CYP2D6 genotyping. The high frequency of the CYP2D6*10 allele in the Karen population warrants further assessment of its association with the radical curative efficacy of primaquine.
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