ATP2B4 regulatory genetic variants are associated with mild malaria
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, rs1541...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2023-02-01
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| Series: | Malaria Journal |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12936-023-04503-8 |
| _version_ | 1797865523273269248 |
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| author | Alassane Thiam Samia Nisar Mathieu Adjemout Frederic Gallardo Oumar Ka Babacar Mbengue Gora Diop Alioune Dieye Sandrine Marquet Pascal Rihet |
| author_facet | Alassane Thiam Samia Nisar Mathieu Adjemout Frederic Gallardo Oumar Ka Babacar Mbengue Gora Diop Alioune Dieye Sandrine Marquet Pascal Rihet |
| author_sort | Alassane Thiam |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T23:09:28Z |
| format | Article |
| id | doaj.art-2d8ace7c7f324aad80161b9d776f20fc |
| institution | Directory Open Access Journal |
| issn | 1475-2875 |
| language | English |
| last_indexed | 2024-04-09T23:09:28Z |
| publishDate | 2023-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Malaria Journal |
| spelling | doaj.art-2d8ace7c7f324aad80161b9d776f20fc2023-03-22T10:28:53ZengBMCMalaria Journal1475-28752023-02-012211710.1186/s12936-023-04503-8ATP2B4 regulatory genetic variants are associated with mild malariaAlassane Thiam0Samia Nisar1Mathieu Adjemout2Frederic Gallardo3Oumar Ka4Babacar Mbengue5Gora Diop6Alioune Dieye7Sandrine Marquet8Pascal Rihet9Unité d’Immunogénétique, Institut Pasteur de DakarAix Marseille Univ, INSERM, TAGC, MarMaRa InstituteAix Marseille Univ, INSERM, TAGC, MarMaRa InstituteAix Marseille Univ, INSERM, TAGC, MarMaRa InstituteService d’Immunologie, Université Cheikh Anta Diop de DakarService d’Immunologie, Université Cheikh Anta Diop de DakarUnité d’Immunogénétique, Institut Pasteur de DakarService d’Immunologie, Université Cheikh Anta Diop de DakarAix Marseille Univ, INSERM, TAGC, MarMaRa InstituteAix Marseille Univ, INSERM, TAGC, MarMaRa InstituteAbstract 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.https://doi.org/10.1186/s12936-023-04503-8Mild malariaPlasmodium falciparumATP2B4Regulatory variants |
| spellingShingle | Alassane Thiam Samia Nisar Mathieu Adjemout Frederic Gallardo Oumar Ka Babacar Mbengue Gora Diop Alioune Dieye Sandrine Marquet Pascal Rihet ATP2B4 regulatory genetic variants are associated with mild malaria Malaria Journal Mild malaria Plasmodium falciparum ATP2B4 Regulatory variants |
| title | ATP2B4 regulatory genetic variants are associated with mild malaria |
| title_full | ATP2B4 regulatory genetic variants are associated with mild malaria |
| title_fullStr | ATP2B4 regulatory genetic variants are associated with mild malaria |
| title_full_unstemmed | ATP2B4 regulatory genetic variants are associated with mild malaria |
| title_short | ATP2B4 regulatory genetic variants are associated with mild malaria |
| title_sort | atp2b4 regulatory genetic variants are associated with mild malaria |
| topic | Mild malaria Plasmodium falciparum ATP2B4 Regulatory variants |
| url | https://doi.org/10.1186/s12936-023-04503-8 |
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