Genetic variability of inflammation and oxidative stress genes in retinal detachment patients with and without proliferative vitreoretinopathy

Abstract

AbstractPurpose: To investigate the associations of selected single nucleotide polymorphisms (SNP) in genes involved in inflammation and oxidative stress among patients with rhegmatogenous retinal detachment (RRD) and patients with proliferative vitreoretinopathy (PVR).Methods: 192 patients with primary RRD who underwent 3‐port pars plana vitrectomy were included; 112 patients developed PVR grade C1 or higher within 3 months from surgery (enrolled as PVR cases), and 80 patients did not develop PVR (enrolled as controls). Genotyping was performed for 9 SNPs with known or predicted functional effects across 7 genes important in antioxidant and inflammatory pathways. SOD2 (rs4880), CAT (rs1001179), GPX1 (rs1050450), IL1B (rs1143623, rs16944, rs1071676), MIR146A (rs2910164), IL6 (rs1800795) and TNF (rs1800629) were genotyped using a fluorescent‐based, competitive allele‐specific polymerase chain reaction (KASP, LGC Genomics, Hoddesdon, UK). For quality control, 10% of the samples were genotyped in duplicate, and all results were concordant.Results: Comparing the genotype frequencies between patients with or without PVR grade C1 or higher, 2 SNPs were found to be statistically significant: (1) SOD2 rs4880 (TT) (p‐value = 0.046; after adjustment = 0.021), as well as CC + TT (p‐value before and after adjustment = 0.05); and (2) IL1B rs1071676 (GC) (p‐value = 0.056; after adjustment = 0.034).Conclusions: Our data reveal association between polymorphisms in SOD2 and ILB1B and PVR. Further studies, in particular, expanded multicentric population‐based studies, would be necessary to elucidate the role of these findings in PVR development.