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...

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Published in:	PloS one Vol. 8; no. 12; p. e82283
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	United States Public Library of Science 09-12-2013 Public Library of Science (PLoS)
Subjects:	Apoptosis Biomedical research Cancer Carriers Case-Control Studies Epistasis, Genetic Female Gene Frequency - genetics Gene polymorphism Genes Genetic aspects Genetic Association Studies Genetic polymorphisms Genetic Predisposition to Disease Genotypes Growth factors Hospitals Humans Inheritance Patterns - genetics Male MDM2 protein Medical research Netherlands p53 Protein Pathogenesis Photoreceptors Polymerase Chain Reaction Polymorphism Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide - genetics Proto-Oncogene Proteins c-mdm2 - genetics Retina Risk Factors Single-nucleotide polymorphism Surgery Tumor proteins Tumor Suppressor Protein p53 - genetics United Kingdom Vitreoretinopathy, Proliferative - genetics Spain
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Membership of the Genetics on PVR Study Group is provided in the Acknowledgments. Competing Interests: The authors have declared that no competing interests exist. Conceived and designed the experiments: SPI IRH JR RGS JCP. Performed the experiments: SPI IRH. Analyzed the data: SPI IF RGS JCP. Contributed reagents/materials/analysis tools: RGS JCP. Wrote the paper: SPI JR RGS JCP. Sample collection and updating patient information: MTGG JMRM ARS YR SH REM DC JCV.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0082283