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Natalia Paulina Quiroz Casian, José Luis Rodríguez, Salvador Lopez-Rubio, Antonio Miranda Duarte, Juan C Zenteno, Genetics; Genetic association of polymorphisms in the p53 and LTA genes with proliferative vitreoretinopathy after retinal detachment surgery in Mexican population. Invest. Ophthalmol. Vis. Sci. 2015;56(7 ):404. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Proliferative vitreoretinopathy (PVR) is a leading blinding, multifactorial disease, which is often associated with ocular trauma, rhegmatogenous retinal detachment and diabetic retinopathy and remains as the major cause of failure after retinal detachment (RD) surgery. Recent studies have suggested that polymorphisms in genes related to inflammatory pathways increase the risk of developing PVR. The aim of this investigation was to perform a case-control study to determine the possible association between PVR and polymorphisms in the p53 and lymphotoxin-alpha (LTA) genes in Mexican patients.
One hundred and eighty two unrelated Mexican subjects were enrolled in the study, including 82 patients with PVR after RD, and 100 ethnically matched patients with a history of RD without PVR. Genomic DNA was isolated from blood leukocytes in each subject and genotyping of the non-synonymous coding SNPs rs1042522 (p53 gene, codon 72) and rs2229094 (LTA gene, codon 13) was performed using polymerase chain reaction amplification and direct nucleotide sequencing. Allele frequencies, genotype frequencies, and Hardy-Weinberg equilibrium were assessed with the HaploView software.
The C allele of rs1042522 in the p53 gene was found to be more frequent in PVR patients compared to non-PVR controls (odds ratio [95% confidence intervals] = 1.3 [0.8-2.0]; p = 0.3). Specifically, the homozygous CC genotype of this SNP was found to be strongly associated with the development of PVR (odds ratio [95% confidence intervals] = 2.2 [0.7-7.6.5]; p = 0.1). In addition, in patients with PVR, the homozygous CC genotype of LTA rs2229094 was found in higher frequency compared to non-PVR subjects (odds ratio [95% confidence intervals] = 1.2 [0-96.9], p= 0.9).
This is the first study performed in Latin American populations associating specific gene polymorphism and PVR after RD surgery. Our results replicate those observed in Caucasian ethnic groups and confirm that the C allele of p53 SNP rs1042522 is a significant genetic risk factor for PVR after RD surgery. Subjects carrying the homozygous genotype CC have a 2.2 fold risk to develop this complication. Further studies are needed to evaluate the role of this polymorphism in the development of PVR in additional populations.
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