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. 2023 Feb 27;22(1):68.
doi: 10.1186/s12936-023-04503-8.

ATP2B4 regulatory genetic variants are associated with mild malaria

Alassane Thiam  1 , Samia Nisar  2   3 , Mathieu Adjemout  2 , Frederic Gallardo  2 , Oumar Ka  4 , Babacar Mbengue  4 , Gora Diop  1 , Alioune Dieye  4 , Sandrine Marquet  5 , Pascal Rihet  6
Affiliations

ATP2B4 regulatory genetic variants are associated with mild malaria

Alassane Thiam et al. Malar J. .

Abstract

Background: Genome-wide association studies have identified ATP2B4 as a severe malaria resistance gene. Recently, 8 potential causal regulatory variants have been shown to be associated with severe malaria.

Methods: Genotyping of rs10900585, rs11240734, rs1541252, rs1541253, rs1541254, rs1541255, rs10751450, rs10751451 and rs10751452 was performed in 154 unrelated individuals (79 controls and 75 mild malaria patients). rs10751450, rs10751451 and rs10751452 were genotyped by Taqman assays, whereas the fragment of the ATP2B4 gene containing the remaining SNPs was sequenced. Logistic regression analysis was used to assess the association between the SNPs and mild malaria.

Results: The results showed that mild malaria was associated with rs10900585, rs11240734, rs1541252, rs1541253, rs1541254, rs1541255, rs10751450, rs10751451 and rs10751452. The homozygous genotypes for the major alleles were associated with an increased risk of mild malaria. Furthermore, the haplotype containing the major alleles and that containing the minor alleles were the most frequent haplotypes. Individuals with the major haplotypes had a significantly higher risk of mild malaria compared to the carriers of the minor allele haplotype.

Conclusions: ATP2B4 polymorphisms that have been associated with severe malaria are also associated with mild malaria.

Keywords: ATP2B4; Mild malaria; Plasmodium falciparum; Regulatory variants.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. Therefore, the authors declare that they have no competing interests.

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