SINGLE NUCLEOTIDE POLYMORPHISMS IN RETINAL DETACHMENT PATIENTS WITH AND WITHOUT PROLIFERATIVE VITREORETINOPATHY

• Published in: Retina (Philadelphia, Pa.) Vol. 40; no. 5; p. 811
• Main Authors: Lumi, Xhevat, Jelen, Mateja M, Zupan, Andrej, Boštjančič, Emanuela, Ravnik-Glavač, Metka, Hawlina, Marko, Glavač, Damjan
• Format: Journal Article
• Language: English
• Published: United States 01.05.2020
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Eye Proteins - genetics; Eye Proteins - metabolism; Female; Genetic Association Studies; Genotype; Humans; Male; Middle Aged; Polymorphism, Single Nucleotide; Retinal Detachment - etiology; Retinal Detachment - genetics; Retinal Detachment - metabolism; Retrospective Studies; RNA - genetics; Vitreoretinopathy, Proliferative - complications; Vitreoretinopathy, Proliferative - genetics; Vitreoretinopathy, Proliferative - metabolism; Young Adult
• ISSN: 1539-2864
• DOI: 10.1097/IAE.0000000000002477

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). 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). 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. 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.