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The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy
Proliferative vitreoretinopathy (PVR) is still the major cause of failure in retinal detachment (RD) surgery. It is believed that down-regulation in the p53 pathway could be an important key in PVR pathogenesis. The purpose was to evaluate the impact of T309G MDM2 polymorphism (rs2279744) in PVR. Di...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857251/ https://www.ncbi.nlm.nih.gov/pubmed/24349246 http://dx.doi.org/10.1371/journal.pone.0082283 |
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author | Pastor-Idoate, Salvador Rodríguez-Hernández, Irene Rojas, Jimena Fernández, Itziar García-Gutiérrez, María T. Ruiz-Moreno, José M. Rocha-Sousa, Amandio Ramkissoon, Yashin Harsum, Steven MacLaren, Robert E. Charteris, David VanMeurs, Jan C. González-Sarmiento, Rogelio Pastor, José C. |
author_facet | Pastor-Idoate, Salvador Rodríguez-Hernández, Irene Rojas, Jimena Fernández, Itziar García-Gutiérrez, María T. Ruiz-Moreno, José M. Rocha-Sousa, Amandio Ramkissoon, Yashin Harsum, Steven MacLaren, Robert E. Charteris, David VanMeurs, Jan C. González-Sarmiento, Rogelio Pastor, José C. |
author_sort | Pastor-Idoate, Salvador |
collection | PubMed |
description | Proliferative vitreoretinopathy (PVR) is still the major cause of failure in retinal detachment (RD) surgery. It is believed that down-regulation in the p53 pathway could be an important key in PVR pathogenesis. The purpose was to evaluate the impact of T309G MDM2 polymorphism (rs2279744) in PVR. Distribution of T309G MDM2 genotypes among European subjects undergoing RD surgery was evaluated. Proportions of genotypes between subsamples from different countries were analyzed. Also, a genetic interaction between rs2279744 in MDM2 and rs1042522 in p53 gene was analyzed. Significant differences were observed comparing MDM2 genotype frequencies at position 309 of intron 1 between cases (GG: 21.6%, TG: 54.5%, TT: 23.8%) and controls (GG: 7.3%, TG: 43.9%, TT: 48.7%). The proportions of genotypes between sub-samples from different countries showed a significant difference. Distribution of GG genotype revealed differences in Spain (35.1–53.0)/(22.6–32.9), Portugal (39.0–74.4)/(21.4–38.9), Netherlands (40.6–66.3)/(25.3–38.8) and UK (37.5–62.4)/(23.3–34.2). The OR of G carriers in the global sample was 5.9 (95% CI: 3.2 to 11.2). The OR of G carriers from Spain and Portugal was 5.4 (95% CI: 2.2–12.7), whereas in the UK and the Netherlands was 7.3 (95% CI: 2.8–19.1). Results indicate that the G allele of rs2279744 is associated with a higher risk of developing PVR in patients undergoing a RD surgery. Further studies are necessary to understand the role of this SNP in the development of PVR. |
format | Online Article Text |
id | pubmed-3857251 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-38572512013-12-13 The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy Pastor-Idoate, Salvador Rodríguez-Hernández, Irene Rojas, Jimena Fernández, Itziar García-Gutiérrez, María T. Ruiz-Moreno, José M. Rocha-Sousa, Amandio Ramkissoon, Yashin Harsum, Steven MacLaren, Robert E. Charteris, David VanMeurs, Jan C. González-Sarmiento, Rogelio Pastor, José C. PLoS One Research Article Proliferative vitreoretinopathy (PVR) is still the major cause of failure in retinal detachment (RD) surgery. It is believed that down-regulation in the p53 pathway could be an important key in PVR pathogenesis. The purpose was to evaluate the impact of T309G MDM2 polymorphism (rs2279744) in PVR. Distribution of T309G MDM2 genotypes among European subjects undergoing RD surgery was evaluated. Proportions of genotypes between subsamples from different countries were analyzed. Also, a genetic interaction between rs2279744 in MDM2 and rs1042522 in p53 gene was analyzed. Significant differences were observed comparing MDM2 genotype frequencies at position 309 of intron 1 between cases (GG: 21.6%, TG: 54.5%, TT: 23.8%) and controls (GG: 7.3%, TG: 43.9%, TT: 48.7%). The proportions of genotypes between sub-samples from different countries showed a significant difference. Distribution of GG genotype revealed differences in Spain (35.1–53.0)/(22.6–32.9), Portugal (39.0–74.4)/(21.4–38.9), Netherlands (40.6–66.3)/(25.3–38.8) and UK (37.5–62.4)/(23.3–34.2). The OR of G carriers in the global sample was 5.9 (95% CI: 3.2 to 11.2). The OR of G carriers from Spain and Portugal was 5.4 (95% CI: 2.2–12.7), whereas in the UK and the Netherlands was 7.3 (95% CI: 2.8–19.1). Results indicate that the G allele of rs2279744 is associated with a higher risk of developing PVR in patients undergoing a RD surgery. Further studies are necessary to understand the role of this SNP in the development of PVR. Public Library of Science 2013-12-09 /pmc/articles/PMC3857251/ /pubmed/24349246 http://dx.doi.org/10.1371/journal.pone.0082283 Text en © 2013 Pastor-Idoate et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Pastor-Idoate, Salvador Rodríguez-Hernández, Irene Rojas, Jimena Fernández, Itziar García-Gutiérrez, María T. Ruiz-Moreno, José M. Rocha-Sousa, Amandio Ramkissoon, Yashin Harsum, Steven MacLaren, Robert E. Charteris, David VanMeurs, Jan C. González-Sarmiento, Rogelio Pastor, José C. The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy |
title | The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy |
title_full | The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy |
title_fullStr | The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy |
title_full_unstemmed | The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy |
title_short | The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative Vitreoretinopathy |
title_sort | t309g mdm2 gene polymorphism is a novel risk factor for proliferative vitreoretinopathy |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3857251/ https://www.ncbi.nlm.nih.gov/pubmed/24349246 http://dx.doi.org/10.1371/journal.pone.0082283 |
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