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Updated: Feb 28, 2026
Author Spotlight: Identifying Compensatory Pathways in Malaria Parasites Containing Hypomorphic Allele of Essential Protein Kinases
Published on: November 22, 2024
Pyruvate Kinase and Fcγ Receptor Gene Copy Numbers Associated With Malaria Phenotypes
Imad Faik1, Hoang van Tong1,2, Bertrand Lell1,3
1Institute of Tropical Medicine, University of Tübingen, Germany.
Abstract:
Genetic factors are associated with susceptibility to many infectious diseases and may be determinants of clinical progression. Gene copy number variation (CNV) has been shown to be associated with phenotypes of numerous diseases, including malaria. We quantified gene copy numbers of the pyruvate kinase, liver, and red blood cell (PKLR) gene as well as of the Fcγ receptor 2A and Fcγ receptor 2C (FCGR2A, FCGR2C) and Fcγ receptor 3 (FCGR3) genes using real-time quantitative polymerase chain reaction (RT-qPCR) assays in Gabonese children with severe (n = 184) or and mild (n = 189) malaria and in healthy Gabonese and white individuals (n = 76 each). The means of PKLR, FCGR2A, FCGR2C, and FCGR3 copy numbers were significantly higher among children with severe malaria compared to those with mild malaria (P < .002), indicating that a surplus of copies of those genes is significantly associated with malaria severity. Copy numbers of the FCGR2A and FCGR2C genes were significantly lower (P = .005) in Gabonese individuals compared with white individuals. In conclusion, CNV of the PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity, and our results provide evidence for a role of CNV in host responses to malaria.
Insights
Gene copy number variation (CNV) in PKLR, FCGR2A, FCGR2C, and FCGR3 genes is linked to malaria severity in Gabonese children. Higher gene copy numbers correlated with severe malaria, suggesting CNV
Area of Science:
- Genetics
- Immunology
- Infectious Diseases
Background:
- Genetic factors influence infectious disease susceptibility and clinical progression.
- Gene copy number variation (CNV) is associated with various disease phenotypes, including malaria.
- Understanding host genetic factors is crucial for malaria research.
Purpose of the Study:
- To quantify gene copy numbers of PKLR, FCGR2A, FCGR2C, and FCGR3 genes in relation to malaria severity.
- To investigate the association between CNV and host responses to malaria in Gabonese children.
- To compare gene copy numbers between Gabonese and white individuals.
Main Methods:
- Real-time quantitative polymerase chain reaction (RT-qPCR) assays were used.
- Gene copy numbers of PKLR, FCGR2A, FCGR2C, and FCGR3 were quantified.
- Study included Gabonese children with severe or mild malaria and healthy Gabonese and white individuals.
Main Results:
- Significantly higher mean copy numbers of PKLR, FCGR2A, FCGR2C, and FCGR3 were observed in children with severe malaria compared to mild malaria (P < .002).
- Copy numbers of FCGR2A and FCGR2C were significantly lower in Gabonese individuals compared to white individuals (P = .005).
- CNV of these genes is significantly associated with malaria severity.
Conclusions:
- CNV of PKLR, FCGR2A, FCGR2C, and FCGR3 genes is associated with malaria severity.
- The findings provide evidence for the role of CNV in host responses to malaria.
- Genetic variations in these genes may influence malaria clinical outcomes.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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