RT info:eu-repo/semantics/article
T1 The T309G MDM2 gene polymorphism is a novel risk factor for proliferative vitreoretinopathy
A1 Pastor Idoate, Salvador
A1 Rodríguez Hernández, Irene
A1 Rojas, Jimena
A1 Fernández Martínez, Itziar
A1 García Gutiérrez, María Teresa
A1 Ruiz Moreno, José María
A1 Rocha Sousa, Amandio
A1 Ramkissoon, Yashin
A1 Harsum, Steven
A1 MacLaren, Robert E.
A1 Charteris, David
A1 Van Meurs, Jan C.
A1 González Sarmiento, Rogelio
A1 Pastor Jimeno, José Carlos
AB AbstractProliferative 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.
YR 2013
FD 2013
LK https://uvadoc.uva.es/handle/10324/65114
UL https://uvadoc.uva.es/handle/10324/65114
LA eng
NO PLoS One, diciembre 2013, vol. 8, n. 12, e82283
DS UVaDOC
RD 23-ene-2025