Author/Editor		Lumi, Xhevat; Jelen, Mateja; Zupan, Andrej; Boštjančič, Emanuela; Ravnik-Glavač, Metka; Hawlina, Marko; Glavač, Damjan
Title		Single nucleotide polymorphisms in retinal detachment patients with and without proliferative vitreoretinopathy
Type		članek
Publication year		2019
Volume		str. str.
ISSN		0275-004X - Retina (Philadelphia, Pa.)
Language		eng
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 theIL10) (P= 0.034), and rs1800471 (TGFB1) (P= 0.032). After adjustment none of the 13 analyzed single nucleotide polymorphisms showed statistically significant associations insingle nucleotide polymorphism genotype distributions between patients with RRD withand 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.
Keywords		nucleotide polymorphisms retinal detachment proliferative vitreoretinopathy polimorfizmi nukleotidov odstranitev mrežnice proliferativna vitreoretinopatija