Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria

Abstract Background Nigeria accounts for the greatest burden of malaria disease globally. Malaria control requires an effective treatment after diagnosis. The efficacy of antimalarial drugs can be assessed through the analysis of genetic changes associated with reduced drug sensitivity. Methods This...

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Main Authors: Alexandra Martín Ramírez, Akeem Abiodun Akindele, Vicenta González Mora, Luz García, Nicole Lara, Eva de la Torre-Capitán Matías, Irene Molina de la Fuente, Sulaiman Adebayo Nassar, Thuy-Huong Ta-Tang, Agustín Benito, Pedro Berzosa
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Language:English
Published: BMC 2025-04-01
Series:Tropical Medicine and Health
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Online Access:https://doi.org/10.1186/s41182-025-00732-6
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author Alexandra Martín Ramírez
Akeem Abiodun Akindele
Vicenta González Mora
Luz García
Nicole Lara
Eva de la Torre-Capitán Matías
Irene Molina de la Fuente
Sulaiman Adebayo Nassar
Thuy-Huong Ta-Tang
Agustín Benito
Pedro Berzosa
author_facet Alexandra Martín Ramírez
Akeem Abiodun Akindele
Vicenta González Mora
Luz García
Nicole Lara
Eva de la Torre-Capitán Matías
Irene Molina de la Fuente
Sulaiman Adebayo Nassar
Thuy-Huong Ta-Tang
Agustín Benito
Pedro Berzosa
author_sort Alexandra Martín Ramírez
collection DOAJ
description Abstract Background Nigeria accounts for the greatest burden of malaria disease globally. Malaria control requires an effective treatment after diagnosis. The efficacy of antimalarial drugs can be assessed through the analysis of genetic changes associated with reduced drug sensitivity. Methods This study includes the analysis of the markers associated with artemisinin (pfk13), sulfadoxine–pyrimethamine (pfdhfr and pfdhps), and chloroquine and its derivatives (pfmdr1 and pfcrt) resistances, in blood samples collected from asymptomatic children in south-western Nigeria. Results The 25.95% of samples showed a number of mutations in pfk13 gene. Among those, the validated, C580Y, and the candidate, R515K, mutations by WHO were detected. Twenty-seven pfdhps different haplotypes were observed, with the haplotype ISGKAA as the most prevalent (18.80%), followed by IFGKAA (12.78%) and IAGKAA (11.28%). The VAGKGS was the most common haplotype carrying the I431V mutation (10.53%). Combinations of alleles in pfdhfr and pfdhps genes provided a 40.98% of samples with the partially resistant haplotype (IRNG). No samples exhibited the ‘fully resistant’ or ‘super resistant’ pfdhprf–pfdhps combinations, but one sample contained mutations at pfdhfr 51I, 59R, and 108N with pfdhps 431V, 436A, A437G and 540E. The analysis of pfcrt 72–76 variants disclosed a 12.12% of samples with the mutant-type (CVIET). No double mutant pfmdr1 haplotypes 86Y/1246Y (YY) were detected, nor was the haplotype formed by the alleles 86Y pfmdr1 + pfcrt 76 T (YT). Conclusions There was no evidence of parasite genomes harbouring multilocus mutations conferring multidrug resistance, although evidence of a validated (C580Y) and a candidate (R515K) mutation in pfk13 gene, high frequency pfdhfr mutant alleles and high variability of pfdhps haplotypes were found in this study, which provides a baseline information essential in monitoring P. falciparum resistances.
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spelling doaj-art-2833db782e1f413f8e76c6d0ad5825a72025-08-20T02:12:07ZengBMCTropical Medicine and Health1349-41472025-04-0153111510.1186/s41182-025-00732-6Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern NigeriaAlexandra Martín Ramírez0Akeem Abiodun Akindele1Vicenta González Mora2Luz García3Nicole Lara4Eva de la Torre-Capitán Matías5Irene Molina de la Fuente6Sulaiman Adebayo Nassar7Thuy-Huong Ta-Tang8Agustín Benito9Pedro Berzosa10Centro de Investigación Biomédica en Red de Enfermedades Infecciosas, Instituto de Salud Carlos IIIMedical Laboratory Science Department, Ladoke Akintola University of TechnologyNational Centre of Tropical Medicine, Institute of Health Carlos IIINational Centre of Tropical Medicine, Institute of Health Carlos IIIComplutense University of MadridAlcala UniversityCentro de Investigación Biomédica en Red de Enfermedades Infecciosas, Instituto de Salud Carlos IIIMedical Laboratory Science Department, Ladoke Akintola University of TechnologyCentro de Investigación Biomédica en Red de Enfermedades Infecciosas, Instituto de Salud Carlos IIICentro de Investigación Biomédica en Red de Enfermedades Infecciosas, Instituto de Salud Carlos IIICentro de Investigación Biomédica en Red de Enfermedades Infecciosas, Instituto de Salud Carlos IIIAbstract Background Nigeria accounts for the greatest burden of malaria disease globally. Malaria control requires an effective treatment after diagnosis. The efficacy of antimalarial drugs can be assessed through the analysis of genetic changes associated with reduced drug sensitivity. Methods This study includes the analysis of the markers associated with artemisinin (pfk13), sulfadoxine–pyrimethamine (pfdhfr and pfdhps), and chloroquine and its derivatives (pfmdr1 and pfcrt) resistances, in blood samples collected from asymptomatic children in south-western Nigeria. Results The 25.95% of samples showed a number of mutations in pfk13 gene. Among those, the validated, C580Y, and the candidate, R515K, mutations by WHO were detected. Twenty-seven pfdhps different haplotypes were observed, with the haplotype ISGKAA as the most prevalent (18.80%), followed by IFGKAA (12.78%) and IAGKAA (11.28%). The VAGKGS was the most common haplotype carrying the I431V mutation (10.53%). Combinations of alleles in pfdhfr and pfdhps genes provided a 40.98% of samples with the partially resistant haplotype (IRNG). No samples exhibited the ‘fully resistant’ or ‘super resistant’ pfdhprf–pfdhps combinations, but one sample contained mutations at pfdhfr 51I, 59R, and 108N with pfdhps 431V, 436A, A437G and 540E. The analysis of pfcrt 72–76 variants disclosed a 12.12% of samples with the mutant-type (CVIET). No double mutant pfmdr1 haplotypes 86Y/1246Y (YY) were detected, nor was the haplotype formed by the alleles 86Y pfmdr1 + pfcrt 76 T (YT). Conclusions There was no evidence of parasite genomes harbouring multilocus mutations conferring multidrug resistance, although evidence of a validated (C580Y) and a candidate (R515K) mutation in pfk13 gene, high frequency pfdhfr mutant alleles and high variability of pfdhps haplotypes were found in this study, which provides a baseline information essential in monitoring P. falciparum resistances.https://doi.org/10.1186/s41182-025-00732-6MalariaDrug-resistant P. falciparumAntimalarial drug resistanceNigeriapfk13Antimalarial drug resistance
spellingShingle Alexandra Martín Ramírez
Akeem Abiodun Akindele
Vicenta González Mora
Luz García
Nicole Lara
Eva de la Torre-Capitán Matías
Irene Molina de la Fuente
Sulaiman Adebayo Nassar
Thuy-Huong Ta-Tang
Agustín Benito
Pedro Berzosa
Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria
Tropical Medicine and Health
Malaria
Drug-resistant P. falciparum
Antimalarial drug resistance
Nigeria
pfk13
Antimalarial drug resistance
title Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria
title_full Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria
title_fullStr Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria
title_full_unstemmed Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria
title_short Mutational profile of pfdhfr, pfdhps, pfmdr1, pfcrt and pfk13 genes of P. falciparum associated with resistance to different antimalarial drugs in Osun state, southwestern Nigeria
title_sort mutational profile of pfdhfr pfdhps pfmdr1 pfcrt and pfk13 genes of p falciparum associated with resistance to different antimalarial drugs in osun state southwestern nigeria
topic Malaria
Drug-resistant P. falciparum
Antimalarial drug resistance
Nigeria
pfk13
Antimalarial drug resistance
url https://doi.org/10.1186/s41182-025-00732-6
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