TY - JOUR
T1 - BAX and BCL-2 polymorphisms, as predictors of proliferative vitreoretinopathy development in patients suffering retinal detachment
T2 - the Retina 4 project
AU - Pastor-Idoate, Salvador
AU - Rodríguez-Hernández, Irene
AU - Rojas, Jimena
AU - Fernández, Itziar
AU - García-Gutierrez, María-Teresa
AU - Ruiz-Moreno, Jose M
AU - Rocha-Sousa, Amandio
AU - Ramkissoon, Yashin D
AU - Harsum, Steven
AU - MacLaren, Robert E
AU - Charteris, David G
AU - Van Meurs, Jan C
AU - González-Sarmiento, Rogelio
AU - Pastor, Jose C
N1 - © 2015 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.
PY - 2015/11
Y1 - 2015/11
N2 - 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.
AB - 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.
KW - Adult
KW - Apoptosis
KW - Female
KW - Gene Frequency
KW - Genetic Markers
KW - Genotype
KW - Humans
KW - Male
KW - Middle Aged
KW - Polymorphism, Single Nucleotide
KW - Proto-Oncogene Proteins c-bcl-2/genetics
KW - Retinal Detachment/genetics
KW - Risk Factors
KW - Vitrectomy
KW - Vitreoretinopathy, Proliferative/diagnosis
KW - bcl-2-Associated X Protein/genetics
U2 - 10.1111/aos.12718
DO - 10.1111/aos.12718
M3 - Article
C2 - 25991504
SN - 1755-375X
VL - 93
SP - e541-9
JO - Acta Ophthalmologica
JF - Acta Ophthalmologica
IS - 7
ER -