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Microorganisms
Volume 11
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10.3390/microorganisms11102508
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Article

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

by
Carlos A. Naranjo-Galvis
1,*,
Rima McLeod
2,
Jorge Enrique Gómez-Marín
3,
Alejandra de-la-Torre
3,4,
Cristian Rocha-Roa
3,
Néstor Cardona
3,5 and
Juan Carlos Sepúlveda-Arias
6
1
Facultad de Salud, Universidad Autónoma de Manizales, Manizales 170002, Colombia
2
Department of Ophthalmology and Visual Sciences and Pediatrics (Infectious Diseases), The University of Chicago, Chicago, IL 60637, USA
3
Grupo GEPAMOL, Centro de Investigaciones Biomédicas, Universidad del Quindío, Armenia 630001, Colombia
4
Grupo de Investigación en Neurociencias (NeURos), Neurovitae Research Center, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogotá 110111, Colombia
5
Facultad de Odontología, Universidad Antonio Nariño, Armenia 630004, Colombia
6
Grupo Infección e Inmunidad, Facultad de Ciencias de la Salud, Universidad Tecnológica de Pereira, Pereira 660003, Colombia
*
Author to whom correspondence should be addressed.
Microorganisms 2023, 11(10), 2508; https://doi.org/10.3390/microorganisms11102508
Submission received: 24 July 2023 / Revised: 15 August 2023 / Accepted: 24 August 2023 / Published: 7 October 2023
(This article belongs to the Special Issue Toxoplasma and Toxoplasmosis)
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Abstract

Ocular 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.
Keywords: ocular toxoplasmosis; P2RX7; polymorphisms; protein structural modeling ocular toxoplasmosis; P2RX7; polymorphisms; protein structural modeling

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MDPI and ACS Style

Naranjo-Galvis, C.A.; McLeod, R.; Gómez-Marín, J.E.; de-la-Torre, A.; Rocha-Roa, C.; Cardona, N.; Sepúlveda-Arias, J.C. Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia. Microorganisms 2023, 11, 2508. https://doi.org/10.3390/microorganisms11102508

AMA Style

Naranjo-Galvis CA, McLeod R, Gómez-Marín JE, de-la-Torre A, Rocha-Roa C, Cardona N, Sepúlveda-Arias JC. Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia. Microorganisms. 2023; 11(10):2508. https://doi.org/10.3390/microorganisms11102508

Chicago/Turabian Style

Naranjo-Galvis, Carlos A., Rima McLeod, Jorge Enrique Gómez-Marín, Alejandra de-la-Torre, Cristian Rocha-Roa, Néstor Cardona, and Juan Carlos Sepúlveda-Arias. 2023. "Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia" Microorganisms 11, no. 10: 2508. https://doi.org/10.3390/microorganisms11102508

APA Style

Naranjo-Galvis, C. A., McLeod, R., Gómez-Marín, J. E., de-la-Torre, A., Rocha-Roa, C., Cardona, N., & Sepúlveda-Arias, J. C. (2023). Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia. Microorganisms, 11(10), 2508. https://doi.org/10.3390/microorganisms11102508

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