Single Nucleotide Polymorphisms in Retinal Detachment Patients With and Without Proliferative Vitreoretinopathy

Abstract

Purpose: To investigate differences in genotype distributions of single nucleotide polymorphisms within genes, encoding inflammatory mediators, among patients with rhegmatogenous retinal detachment (RRD) and patients with proliferative vitreoretinopathy (PVR). Methods: A genetic association study was performed on 191 Slovenian patients, divided into 2 groups: 113 RRD patients with PVR and 78 RRD patients without PVR. Genotype distributions were investigated within the following 13 single nucleotide polymorphisms: rs3760396 (CCL2), rs9990554 (FGF2), rs17561 (IL1A), rs2069763 (IL2), rs1800795 (IL6), rs1800871 (IL10), rs3008 (JAK3), rs2229094 (LTA), rs1042522 (TP53), rs7656613 (PDGFRA), rs7226855 (SMAD7), rs1800471 (TGFB1), and rs1800629 (TNF). Results: Differences in genotype distributions between patients with RRD with or without PVR were detected in rs1800795 (IL6) (P = 0.04), rs1800871 (in the vicinity of the IL10) (P = 0.034), and rs1800471 (TGFB1) (P = 0.032). After adjustment none of the 13 analyzed single nucleotide polymorphisms showed statistically significant associations in single nucleotide polymorphism genotype distributions between patients with RRD with and without PVR. Conclusion: Further research is needed, particularly expanded multicentric population-based studies, to clarify the issue of genetic contribution to PVR from different genetic, clinical, and population-based aspects.

Inflammatory mediators of proliferative vitreoretinopathy: hypothesis and review

“…Interestingly, the significant difference in genotype distribution of rs1800795 (IL-6) could be observed between PVR cases and controls [61]. Furthermore, in IL-6 (rs1800795), RRD patients with the G allele possibly had a higher risk of progressing into PVR than patients with the C gene [61]. Unfortunately, after adjustment by multiple hypothesis testing, genotype distribution of IL-6 (rs1800795) had no statistical difference between two groups [61].…”

“…Moreover, the expression of TNF-a mRNA-positive cells was obtained in epiretinal membranes in PVR patients, which might provide new direction for the treatment of PVR [72]. Although the association between various SNPs in TNF, such as rs1800629 (TNF), and the increased risk of PVR was reported, previous results could not be replicated [61]. Based on these results, we believe that TNF-a is implicated in the development of PVR and thus represents a therapeutic target.…”

“…The function of IL-6 signal transduction depends on the gp130 family [60]. Recently, Lumi et al [61] have assessed the differences in genotype distributions of single-nucleotide polymorphisms (SNPs) between PVR cases and RRD cases. Interestingly, the significant difference in genotype distribution of rs1800795 (IL-6) could be observed between PVR cases and controls [61].…”

“…Recently, Lumi et al [61] have assessed the differences in genotype distributions of single-nucleotide polymorphisms (SNPs) between PVR cases and RRD cases. Interestingly, the significant difference in genotype distribution of rs1800795 (IL-6) could be observed between PVR cases and controls [61]. Furthermore, in IL-6 (rs1800795), RRD patients with the G allele possibly had a higher risk of progressing into PVR than patients with the C gene [61].…”

“…Furthermore, in IL-6 (rs1800795), RRD patients with the G allele possibly had a higher risk of progressing into PVR than patients with the C gene [61]. Unfortunately, after adjustment by multiple hypothesis testing, genotype distribution of IL-6 (rs1800795) had no statistical difference between two groups [61]. Herein, in order to clarify the genetic contribution to PVR, further investigations are needed.…”