BAX and BCL-2 polymorphisms, as predictors of proliferative vitreoretinopathy development in patients suffering retinal detachment: the Retina 4 project.
Pastor-Idoate, Salvador 1,2; Rodriguez-Hernandez, Irene 2,3; Rojas, Jimena 1; Fernandez, Itziar 1; Garcia-Gutierrez, Maria-Teresa 1; Ruiz-Moreno, Jose M. 4; Rocha-Sousa, Amandio 5; Ramkissoon, Yashin D. 6,7; Harsum, Steven 6; MacLaren, Robert E. 6,8; Charteris, David G. 6; Van Meurs, Jan C. 9; Gonzalez-Sarmiento, Rogelio 2,3; Pastor, Jose C. 1; the Genetics on PVR Study Group
[Article]
Acta Ophthalmologica.
93(7):e541-e549, November 2015.
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Purpose: To compare the distribution of BCL-2 -938C>A (rs2279115) and BAX -248G>A (rs4645878) genotypes among European subjects undergoing rhegmatogenous retinal detachment (RRD) surgery in relation to the further development of proliferative vitreoretinopathy (PVR).
Methods: A case-control gene association study, as a part of Retina 4 project, was designed. rs2279115 and rs4645878 polymorphisms were analysed in 555 samples from patients with RRD (134 with PVR secondary to surgery). Proportions of genotypes and AA homozygous groups of BCL-2 and BAX polymorphisms between subsamples were analysed in two phases. Genotypic and allelic frequencies were compared in global sample and in subsamples.
Results: BAX: Differences were observed in the genotype frequencies and in AA carriers between controls and cases in the global series. The odds ratio (OR) of A carriers in the global sample was 1.7 (95% CI: 1.23-2.51). Proportions of genotypes in Spain Portugal were significant different. The OR of A carriers from Spain and Portugal was 1.8 (95% CI: 1.11-2.95). BCL-2: No significant differences were observed in genotype frequencies. However, proportions of genotypes in Spain Portugal were significant. A protective effect (OR: 0.6 95% CI: 0.43-0.96) was found in A carriers from Spain and Portugal.
Conclusions: Results suggest that A allele of rs4645878 could be a biomarker of high risk of developing PVR in patients undergoing RD surgery. The possible role of BCL-2 (inhibitor of necroptosis pathway) as a possible new target in PVR prophylaxis should be investigated.
(C) 2015 John Wiley & Sons, Ltd
