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

Salvador Pastor-Idoate, Irene Rodríguez-Hernández, Jimena Rojas, Itziar Fernández, María-Teresa García-Gutierrez, Jose M Ruiz-Moreno, Amandio Rocha-Sousa, Yashin D Ramkissoon, Steven Harsum, Robert E MacLaren, David G Charteris, Jan C Van Meurs, Rogelio González-Sarmiento, Jose C Pastor,

Research output: Contribution to journalArticleResearchpeer-review

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.

Original languageEnglish
Pages (from-to)e541-9
JournalActa Ophthalmologica
Volume93
Issue number7
DOIs
Publication statusPublished - Nov 2015

Keywords

  • Adult
  • Apoptosis
  • Female
  • Gene Frequency
  • Genetic Markers
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Proto-Oncogene Proteins c-bcl-2/genetics
  • Retinal Detachment/genetics
  • Risk Factors
  • Vitrectomy
  • Vitreoretinopathy, Proliferative/diagnosis
  • bcl-2-Associated X Protein/genetics

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