The T309G MDM2 Gene Polymorphism Is a Novel Risk Factor for Proliferative VitreoretinopathyReportar como inadecuado

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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.

Autor: Salvador Pastor-Idoate, Irene Rodríguez-Hernández, Jimena Rojas, Itziar Fernández, María T. García-Gutiérrez, José M. Ruiz



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