Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia
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 <i>P2RX7</i> gene that may have significance in the...
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MDPI AG
2023-10-01
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| Series: | Microorganisms |
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| Online Access: | https://www.mdpi.com/2076-2607/11/10/2508 |
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| author | Carlos A. Naranjo-Galvis Rima McLeod Jorge Enrique Gómez-Marín Alejandra de-la-Torre Cristian Rocha-Roa Néstor Cardona Juan Carlos Sepúlveda-Arias |
| author_facet | Carlos A. Naranjo-Galvis Rima McLeod Jorge Enrique Gómez-Marín Alejandra de-la-Torre Cristian Rocha-Roa Néstor Cardona Juan Carlos Sepúlveda-Arias |
| author_sort | Carlos A. Naranjo-Galvis |
| collection | DOAJ |
| description | 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 <i>P2RX7</i> 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 <i>P2RX7</i> 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 <i>P2RX7</i> 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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| last_indexed | 2024-03-10T21:01:39Z |
| publishDate | 2023-10-01 |
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| series | Microorganisms |
| spelling | doaj.art-6c61c36622a546ee80177a10f2dc989e2023-11-19T17:27:50ZengMDPI AGMicroorganisms2076-26072023-10-011110250810.3390/microorganisms11102508Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in ColombiaCarlos A. Naranjo-Galvis0Rima McLeod1Jorge Enrique Gómez-Marín2Alejandra de-la-Torre3Cristian Rocha-Roa4Néstor Cardona5Juan Carlos Sepúlveda-Arias6Facultad de Salud, Universidad Autónoma de Manizales, Manizales 170002, ColombiaDepartment of Ophthalmology and Visual Sciences and Pediatrics (Infectious Diseases), The University of Chicago, Chicago, IL 60637, USAGrupo GEPAMOL, Centro de Investigaciones Biomédicas, Universidad del Quindío, Armenia 630001, ColombiaGrupo GEPAMOL, Centro de Investigaciones Biomédicas, Universidad del Quindío, Armenia 630001, ColombiaGrupo GEPAMOL, Centro de Investigaciones Biomédicas, Universidad del Quindío, Armenia 630001, ColombiaGrupo GEPAMOL, Centro de Investigaciones Biomédicas, Universidad del Quindío, Armenia 630001, ColombiaGrupo Infección e Inmunidad, Facultad de Ciencias de la Salud, Universidad Tecnológica de Pereira, Pereira 660003, ColombiaOcular 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 <i>P2RX7</i> 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 <i>P2RX7</i> 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 <i>P2RX7</i> 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.https://www.mdpi.com/2076-2607/11/10/2508ocular toxoplasmosis<i>P2RX7</i>polymorphismsprotein structural modeling |
| spellingShingle | Carlos A. Naranjo-Galvis Rima McLeod Jorge Enrique Gómez-Marín Alejandra de-la-Torre Cristian Rocha-Roa Néstor Cardona Juan Carlos Sepúlveda-Arias Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia Microorganisms ocular toxoplasmosis <i>P2RX7</i> polymorphisms protein structural modeling |
| title | Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia |
| title_full | Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia |
| title_fullStr | Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia |
| title_full_unstemmed | Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia |
| title_short | Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia |
| title_sort | genetic variations in the purinergic p2x7 receptor are associated with the immune response to ocular toxoplasmosis in colombia |
| topic | ocular toxoplasmosis <i>P2RX7</i> polymorphisms protein structural modeling |
| url | https://www.mdpi.com/2076-2607/11/10/2508 |
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