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Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition
BACKGROUND: Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most asso...
Autores principales: | , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658927/ https://www.ncbi.nlm.nih.gov/pubmed/23676143 http://dx.doi.org/10.1186/1471-2350-14-52 |
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author | Cénit, María Carmen Márquez, Ana Cordero-Coma, Miguel Fonollosa, Alejandro Adán, Alfredo Martínez-Berriotxoa, Agustín Llorenç, Victor Díaz Valle, David Blanco, Ricardo Cañal, Joaquín Díaz-Llopis, Manuel García Serrano, José Luis de Ramón, Enrique del Rio, María José Begoña Gorroño- Echebarría, Marina Martín-Villa, José Manuel Ortego-Centeno, Norberto Martín, Javier |
author_facet | Cénit, María Carmen Márquez, Ana Cordero-Coma, Miguel Fonollosa, Alejandro Adán, Alfredo Martínez-Berriotxoa, Agustín Llorenç, Victor Díaz Valle, David Blanco, Ricardo Cañal, Joaquín Díaz-Llopis, Manuel García Serrano, José Luis de Ramón, Enrique del Rio, María José Begoña Gorroño- Echebarría, Marina Martín-Villa, José Manuel Ortego-Centeno, Norberto Martín, Javier |
author_sort | Cénit, María Carmen |
collection | PubMed |
description | BACKGROUND: Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition. METHODS: A total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays. RESULTS: A statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P-(value)=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci. CONCLUSION: Our results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility. |
format | Online Article Text |
id | pubmed-3658927 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-36589272013-05-21 Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition Cénit, María Carmen Márquez, Ana Cordero-Coma, Miguel Fonollosa, Alejandro Adán, Alfredo Martínez-Berriotxoa, Agustín Llorenç, Victor Díaz Valle, David Blanco, Ricardo Cañal, Joaquín Díaz-Llopis, Manuel García Serrano, José Luis de Ramón, Enrique del Rio, María José Begoña Gorroño- Echebarría, Marina Martín-Villa, José Manuel Ortego-Centeno, Norberto Martín, Javier BMC Med Genet Research Article BACKGROUND: Recently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition. METHODS: A total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays. RESULTS: A statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P-(value)=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci. CONCLUSION: Our results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility. BioMed Central 2013-05-15 /pmc/articles/PMC3658927/ /pubmed/23676143 http://dx.doi.org/10.1186/1471-2350-14-52 Text en Copyright © 2013 Cénit et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Cénit, María Carmen Márquez, Ana Cordero-Coma, Miguel Fonollosa, Alejandro Adán, Alfredo Martínez-Berriotxoa, Agustín Llorenç, Victor Díaz Valle, David Blanco, Ricardo Cañal, Joaquín Díaz-Llopis, Manuel García Serrano, José Luis de Ramón, Enrique del Rio, María José Begoña Gorroño- Echebarría, Marina Martín-Villa, José Manuel Ortego-Centeno, Norberto Martín, Javier Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
title | Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
title_full | Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
title_fullStr | Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
title_full_unstemmed | Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
title_short | Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
title_sort | evaluation of the il2/il21, il2ra and il2rb genetic variants influence on the endogenous non-anterior uveitis genetic predisposition |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658927/ https://www.ncbi.nlm.nih.gov/pubmed/23676143 http://dx.doi.org/10.1186/1471-2350-14-52 |
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