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

Carlos A. Naranjo-Galvis; Rima McLeod; Jorge Enrique Gómez-Marín; Alejandra de-la-Torre; Cristian Rocha-Roa; Néstor Cardona; Juan Carlos Sepúlveda-Arias

doi:10.3390/microorganisms11102508

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

Título traducido de la contribución: Variaciones genéticas en el receptor purinérgico P2X7 se asocian con la respuesta inmune a la toxoplasmosis ocular en Colombia

Carlos A. Naranjo-Galvis, Rima McLeod, Jorge Enrique Gómez-Marín, Alejandra de-la-Torre, Cristian Rocha-Roa, Néstor Cardona, Juan Carlos Sepúlveda-Arias

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Resumen

La toxoplasmosis ocular (TO) se caracteriza por la inflamación dentro del ojo y es la manifestación clínica más reconocida de la toxoplasmosis. El objetivo de este estudio fue identificar nuevos polimorfismos de un solo nucleótido (SNPs) en el gen P2RX7 que puedan tener importancia en la respuesta inmune a la OT en pacientes colombianos. Se realizó un estudio caso-control para investigar las asociaciones entre SNPs (rs1718119 y rs2230912) en el gen P2RX7 y OT en 64 pacientes colombianos con OT y 64 controles. Se utilizó electroforesis capilar para analizar los productos de amplificación, y se emplearon algoritmos in silico para predecir SNPs deletéreos. El análisis de estabilidad de los cambios aminoacídicos indicó que ambas mutaciones podrían conducir a una disminución de la estabilidad de la estructura de la proteína. Un SNP no sinónimo, Gln460Arg, localizado en la larga cola citoplasmática del receptor, mostró una asociación significativa con OT (corrección de Bonferroni (BONF) = 0,029; odds ratio OR = 3,46; intervalo de confianza CI: 1,05 a 11,39), mientras que no se observó ninguna asociación significativa entre rs1718119 y el riesgo de OT. Sobre la base del análisis de la estructura tridimensional del trímero de la proteína P2RX7, se plantea la hipótesis de que un aumento de la flexibilidad del dominio citoplasmático de este receptor podría alterar su función. Este SNP podría servir potencialmente como biomarcador para identificar pacientes colombianos con riesgo de OT.

Título traducido de la contribución	Variaciones genéticas en el receptor purinérgico P2X7 se asocian con la respuesta inmune a la toxoplasmosis ocular en Colombia
Idioma original	Inglés estadounidense
Número de artículo	2508
Publicación	Microorganisms
Volumen	11
N.º	10
DOI	https://doi.org/10.3390/microorganisms11102508
Estado	Publicada - oct. 7 2023

Áreas temáticas de ASJC Scopus

Microbiología
Microbiología (médica)
Virología

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

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.",

author = "Naranjo-Galvis, {Carlos A.} and Rima McLeod and G{\'o}mez-Mar{\'i}n, {Jorge Enrique} and Alejandra de-la-Torre and Cristian Rocha-Roa and N{\'e}stor Cardona and Sep{\'u}lveda-Arias, {Juan Carlos}",

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month = oct,

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doi = "10.3390/microorganisms11102508",

language = "English (US)",

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T1 - Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia

AU - Naranjo-Galvis, Carlos A.

AU - McLeod, Rima

AU - Gómez-Marín, Jorge Enrique

AU - de-la-Torre, Alejandra

AU - Rocha-Roa, Cristian

AU - Cardona, Néstor

AU - Sepúlveda-Arias, Juan Carlos

PY - 2023/10/7

Y1 - 2023/10/7

N2 - 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.

AB - 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.

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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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