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Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia

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dc.creatorNaranjo-Galvis, Carlos A.spa
dc.creatorMcLeod, Rimaspa
dc.creatorGómez-Marín, Jorge Enriquespa
dc.creatorDe La Torre Cifuentes, Ligia Alejandraspa
dc.creatorRocha-Roa, Cristianspa
dc.creatorCardona, Néstorspa
dc.creatorSepúlveda Arias, Juan Carlosspa
dc.date.accessioned2024-01-31T18:26:23Z
dc.date.available2024-01-31T18:26:23Z
dc.date.created2023-10-07spa
dc.date.issued2023spa
dc.descriptionOcular toxoplasmosis (OT) is characterized by inflammation within the eye and is the most recognized clinical manifestation of toxoplasmosis. The objective of this study was to identify new single-nucleotide polymorphisms (SNPs) in the P2RX7 gene that may have significance in the immune response to OT in Colombian patients. A case–control study was conducted to investigate the associations between SNPs (rs1718119 and rs2230912) in the P2RX7 gene and OT in 64 Colombian patients with OT and 64 controls. Capillary electrophoresis was used to analyze the amplification products, and in silico algorithms were employed to predict deleterious SNPs. Stability analysis of amino acid changes indicated that both mutations could lead to decreased protein structure stability. A nonsynonymous SNP, Gln460Arg, located in the long cytoplasmic tail of the receptor, showed a significant association with OT (Bonferroni correction (BONF) = 0.029; odds ratio OR = 3.46; confidence interval CI: 1.05 to 11.39), while no significant association between rs1718119 and OT risk was observed. Based on the 3D structure analysis of the P2RX7 protein trimer, it is hypothesized that an increase in the flexibility of the cytoplasmic domain of this receptor could alter its function. This SNP could potentially serve as a biomarker for identifying Colombian patients at risk of OT.spa
dc.format.mimetypeapplication/pdfspa
dc.identifier.doihttp://doi.org/10.3390/microorganisms11102508spa
dc.identifier.issn2076-2607spa
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/42125
dc.language.isoengspa
dc.publisherUniversidad del Rosariospa
dc.relation.urihttps://www.mdpi.com/2076-2607/11/10/2508spa
dc.rightsAttribution 4.0 Internationalspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccessspa
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/spa
dc.sourceMicroorganismsspa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subjectOcular toxoplasmosisspa
dc.subjectP2RX7spa
dc.subjectpolymorphismsspa
dc.subjectprotein structural modelingspa
dc.titleGenetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombiaspa
dc.typearticlespa
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersionspa
dc.type.spaArtículospa
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