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Hoon, K. S.

Publications and source records attributed to Hoon, K. S..

4 recordsLinked to original sources

Plasmodium vivax relapse reservoirs in Ethiopia: microhaplotype sequencing informs recurrent infection origins

Determining the origin of recurrent Plasmodium vivax infections is critical for quantifying the public health burden of the hypnozoite reservoir, understanding transmission potential, and evaluating anti-relapse antimalarial efficacy. In Ethiopia, P. vivax is a major contributor to malaria burden, but the relative contribution of relapse to recurrent infections remains poorly quantified. We performed microhaplotype genotyping using a panel of 93 genome-wide markers and applied a probabilistic recurrence classification framework to recurrent P. vivax samples collected in two Ethiopian radical cure trials (IMPROV and OPRA). Genotyping was conducted on parasite isolates collected at enrolment and subsequent recurrences, with participants monitored over a 12-month follow-up period (IMPROV: 604 samples from 444 participants; OPRA: 621 samples from 342 participants). Recurrent infections were classified using a Bayesian hierarchical model implemented in Pv3Rs, which estimated marginal posterior probabilities of relapse, reinfection, or recrudescence based on genotyping data and background population dynamics. Priors were structured across biologically motivated time windows reflecting the natural history of P. vivax infection in Ethiopia and anticipated drug efficacy. Recurrences with a probability of relapse (p(L)) [≥] 0.75 were classified as relapses. In the absence of primaquine, probable relapse was the dominant classification for primary recurrent infections in both trials (75.5%; 102/135) and for consecutive recurrent infections within individuals (75.2%; 204/271). Primaquine substantially reduced the proportion of participants experiencing recurrent infections attributable to probable relapse, from 57.3% to 1.7% in IMPROV and from 60.2% to 9.5% in OPRA. Polyclonal infection at enrolment was independently associated with increased odds of recurrence and a higher rate of probable relapse in OPRA, with a consistent but non-significant trend observed in IMPROV. These findings provide direct molecular evidence that the hypnozoite reservoir is the dominant driver of recurrent P. vivax infections in Ethiopia in the absence of radical cure. The marked reduction in probable relapse following primaquine treatment highlights the critical importance of expanding access to safe and effective radical cure strategies in Ethiopia and other comparable high-transmission settings.

genetics↗

Pfcrt copy number amplification detected in a Plasmodium falciparum outbreak

Antimalarial resistance is one of the greatest threats to malaria elimination. Following an outbreak of Plasmodium falciparum infection in Sabah Malaysia in 2019, 98 samples were sequenced to search for adaptations driving the outbreak. The genomic data revealed evidence of clonal expansion of a strain carrying multiple copies of the chloroquine resistance transporter gene (pfcrt) in 86 cases. A TaqMan qPCR assay was developed to quantify pfcrt copy number, confirming the in silico evidence of duplication. Whilst point mutations in pfcrt have been associated with resistance to chloroquine and other drugs, copy number amplification has not been widely explored as a resistance mechanism. We investigated the genetic architecture of the duplication, revealing a wildtype haplotype (3D7 reference-type with 76K variant) and a novel mutant (with 76T mutation). Application of the TaqMan assay in 43 P. falciparum cases from neighbouring Palawan Island, the Philippines, identified a further two cases with pfcrt duplication. Assessment of the global genomic data in the MalariaGEN Pf8 repository identified a further 86 cases, including 73 (85%) from West Africa with evidence of pfcrt duplication. Amongst 47 monoclonal MalariaGEN cases, majority (95%) comprised wild type and mutant variants at codon 76. Our study reveals a potential previously unconsidered antimalarial resistance mechanism for P. falciparum and provides an assay for surveillance in other populations.

genomics↗

Integrative genomics of Plasmodium knowlesi reveals parasite-intrinsic regulators of severe human malaria

To dissect parasite determinants of clinical disease severity in Plasmodium knowlesi, we performed the first integrative genome-wide association (GWAS), transcriptomic, and expression quantitative trait locus (eQTL) analysis from clinical malaria isolates. We identify distinct parasite programs associated with WHO-defined severe disease, characterized by transcriptional activation of stress-response and host-interaction pathways. In contrast, invasion-linked programs were more strongly associated with parasite burden, while immune-evasion pathways showed overlapping but distinct associations with both burden and severity. GWAS and eQTL analyses revealed genetic regulation of transcriptional states, including immune-evasion variant antigen families (SICAvar and kir) and chromatin-associated regulators. Mature gametocyte transcripts were detectable across infections, including those with low parasitaemia, indicating that transmission-stage expression occurs independently of both clinical severity and parasite density. Together, these findings show that severe P. knowlesi malaria is associated with genetically regulated parasite transcriptional programs that are not fully explained by parasite burden.

genomics↗

MinSNPs: an R package for derivation of resolution-optimised SNP sets from microbial genomic data

2.Here we present the R package - MinSNPs. This is designed to assemble resolution optimised sets of single nucleotide polymorphisms (SNPs) from alignments such as genome wide orthologous SNP matrices. We also demonstrate a pipeline for assembling such matrices from multiple bio-projects, so as to facilitate SNP set derivation from globally representative data sets. MinSNPs can derive sets of SNPs optimised for discriminating any user-defined combination of sequences from all others. Alternatively, SNP sets may be optimised to discriminate all from all, i.e., to maximise diversity. MinSNPs encompasses functions that facilitate rapid and flexible SNP mining, and clear and comprehensive presentation of the results. The MinSNPs running time scales in a linear fashion with input data volume, and the numbers of SNPs and SNPs sets specified in the output. MinSNPs was tested using a previously reported orthologous SNP matrix of Staphylococcus aureus. and an orthologous SNP matrix of 3,279 genomes with 164,335 SNPs assembled from four S. aureus short read genomic data sets. MinSNPs demonstrated efficacy in deriving discriminatory SNP sets for potential surveillance targets and in identifying SNP sets optimised to discriminate isolates from different clonal complexes (CC). MinSNPs was also tested with a large Plasmodium vivax orthologous SNP matrix. A set of five SNPs was derived that reliably indicated the country of origin within 3 south-east Asian countries. In summary, we report the capacity to assemble comprehensive SNP matrices that effectively capture microbial genomic diversity, and to rapidly and flexibly mine these entities for optimised surveillance marker sets. 3. Impact statementWe present the R package "MinSNPs". This derives resolution optimised SNP sets from datasets of genome sequence variation. Such SNP sets can underpin targeted genetic analysis for high throughput surveillance of microbial variants of public health concern. MinSNPs supports considerable flexibility in search methods. The package allows non-specialist bioinformaticians to easily and quickly convert global scale data of intra-specific genomic variation into SNP sets precisely and efficiently directed towards many microbial genetic analysis tasks. 4. Data summaryO_LIThe source code for minSNPs is available from GitHub under MIT Licence (URLs - https://github.com/ludwigHoon/minSNPs and mirrored in https://cran.r-project.org/package=minSNPs) C_LIO_LIStaphylococcus aureus (STARRS data set) Orthologous SNP Matrix; (URL - https://doi.org/10.1371/journal.pone.0245790.s005) C_LIO_LIPlasmodium vivax data set (VCF file); (URL - https://www.malariagen.net/resource/24) C_LIO_LIStaphylococcus aureus short read sequences (fastq) from bioprojects: PRJEB40888 (or STARRS)(https://www.ncbi.nlm.nih.gov/bioproject/PRJEB40888), PRJEB3174 (https://www.ncbi.nlm.nih.gov/bioproject/PRJEB3174), PRJEB32286 (https://www.ncbi.nlm.nih.gov/bioproject/PRJEB32286), and PRJNA400143 (https://www.ncbi.nlm.nih.gov/bioproject/PRJNA400143) C_LI

bioinformatics↗