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Acta Ophthalmol. 2015 Nov;93(7):e541-9. doi: 10.1111/aos.12718. Epub 2015 May 19.

BAX and BCL-2 polymorphisms, as predictors of proliferative vitreoretinopathy development in patients suffering retinal detachment: the Retina 4 project.

Author information

1
Instituto de Oftalmobiología Aplicada (IOBA-Retina Group), University of Valladolid, Valladolid, Spain.
2
Unidad de Medicina Molecular, Departamento de Medicina, University of Salamanca, Salamanca, Spain.
3
Instituto de Biología Molecular y Celular del Cáncer (IBMCC), Consejo Superior de Investigaciones Científicas (CSIC), Instituto de Investigación Biomédica de Salamanca (IBSAL), University of Salamanca, Salamanca, Spain.
4
University of Castilla La Mancha, Albacete, Spain.
5
Department of Sense Organs, Medical School, Hospital SanJoão, University of Porto, Porto, Portugal.
6
Moorfields Eye Hospital, National Institute of Health Research (NIHR), Biomedical Research Centre, London, UK.
7
Royal Hallamshire Hospital, University of Sheffield, Sheffield, UK.
8
Nuffield Laboratory of Ophthalmology, John Radcliffe Hospital, University of Oxford, Oxford, UK.
9
Rotterdam Eye Hospital, Erasmus Medical Center, University of Rotterdam, Rotterdam, The Netherlands.

Abstract

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.

KEYWORDS:

Bcl-2; apoptosis; bax; necroptosis; proliferative vitreoretinopathy; retinal detachment

PMID:
25991504
DOI:
10.1111/aos.12718
[Indexed for MEDLINE]
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