ATP2B4 regulatory genetic variants are associated with mild malaria.
ATP2B4
Mild malaria
Plasmodium falciparum
Regulatory variants
Journal
Malaria journal
ISSN: 1475-2875
Titre abrégé: Malar J
Pays: England
ID NLM: 101139802
Informations de publication
Date de publication:
27 Feb 2023
27 Feb 2023
Historique:
received:
21
06
2022
accepted:
18
02
2023
entrez:
28
2
2023
pubmed:
1
3
2023
medline:
3
3
2023
Statut:
epublish
Résumé
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. 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. 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. ATP2B4 polymorphisms that have been associated with severe malaria are also associated with mild malaria.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
ATP2B4 polymorphisms that have been associated with severe malaria are also associated with mild malaria.
Identifiants
pubmed: 36849945
doi: 10.1186/s12936-023-04503-8
pii: 10.1186/s12936-023-04503-8
pmc: PMC9972758
doi:
Substances chimiques
ATP2B4 protein, human
EC 3.6.1.8
Plasma Membrane Calcium-Transporting ATPases
EC 3.6.3.8
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
68Informations de copyright
© 2023. The Author(s).
Références
PLoS Genet. 2013 May;9(5):e1003509
pubmed: 23717212
Nature. 2012 Sep 20;489(7416):443-6
pubmed: 22895189
PLoS Genet. 2018 Jan 30;14(1):e1007172
pubmed: 29381699
Scand J Immunol. 2020 Oct;92(4):e12932
pubmed: 32652609
PeerJ. 2018 Dec 03;6:e6048
pubmed: 30533319
PLoS Med. 2005 Dec;2(12):e340
pubmed: 16259530
Malar J. 2021 Jul 2;20(1):297
pubmed: 34215257
Nucleic Acids Res. 2019 Jul 2;47(W1):W191-W198
pubmed: 31066453
Nature. 2020 Jul;583(7818):699-710
pubmed: 32728249
PLoS One. 2008 Apr 23;3(4):e2000
pubmed: 18431485
Lancet Haematol. 2018 Aug;5(8):e333-e345
pubmed: 30033078
Nature. 2015 Oct 8;526(7572):253-7
pubmed: 26416757
Malar J. 2014 May 28;13:198
pubmed: 24884991
Database (Oxford). 2017 Jan 1;2017:
pubmed: 28605766
Hum Genet. 2019 Dec;138(11-12):1341-1357
pubmed: 31667592
Genet Epidemiol. 1998;15(5):435-50
pubmed: 9728888
Trans R Soc Trop Med Hyg. 2000 Apr;94 Suppl 1:S1-90
pubmed: 11103309
Nat Genet. 2014 Nov;46(11):1197-204
pubmed: 25261933
PLoS One. 2010 Jul 15;5(7):e11616
pubmed: 20657648
Nucleic Acids Res. 2018 Jan 4;46(D1):D267-D275
pubmed: 29126285
Nat Commun. 2019 Dec 16;10(1):5732
pubmed: 31844061
Int J Mol Sci. 2022 Apr 27;23(9):
pubmed: 35563239
Bioinformatics. 2005 Jan 15;21(2):263-5
pubmed: 15297300
Am J Trop Med Hyg. 1996 Jun;54(6):613-9
pubmed: 8686780
J Clin Invest. 2017 Aug 1;127(8):3065-3074
pubmed: 28714864
Nat Genet. 2009 Jun;41(6):657-65
pubmed: 19465909
Hum Mol Genet. 2020 Jan 1;29(1):168-176
pubmed: 31691794
Malar J. 2023 Jan 5;22(1):5
pubmed: 36604655