The T309G MDM2 gene polymorphism is a novel risk factor for proliferative vitreoretinopathy

Salvador Pastor-Idoate, Irene Rodríguez-Hernández, Jimena Rojas, Itziar Fernández, María T García-Gutiérrez, José M Ruiz-Moreno, Amandio Rocha-Sousa, Yashin Ramkissoon, Steven Harsum, Robert E MacLaren, David Charteris, Jan C van Meurs, Rogelio González-Sarmiento, José C Pastor,

Research output: Contribution to journalArticleResearchpeer-review


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.

Original languageEnglish
Pages (from-to)e82283
JournalPLoS ONE
Issue number12
Publication statusPublished - 2013


  • Case-Control Studies
  • Epistasis, Genetic
  • Female
  • Gene Frequency/genetics
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Humans
  • Inheritance Patterns/genetics
  • Male
  • Netherlands
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide/genetics
  • Proto-Oncogene Proteins c-mdm2/genetics
  • Risk Factors
  • Tumor Suppressor Protein p53/genetics
  • United Kingdom
  • Vitreoretinopathy, Proliferative/genetics


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