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

Retina. 2020 May;40(5):811-818. doi: 10.1097/IAE.0000000000002477.

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.

MeSH terms

  • 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*
  • RNA / genetics*
  • Retinal Detachment / etiology
  • Retinal Detachment / genetics*
  • Retinal Detachment / metabolism
  • Retrospective Studies
  • Vitreoretinopathy, Proliferative / complications*
  • Vitreoretinopathy, Proliferative / genetics
  • Vitreoretinopathy, Proliferative / metabolism
  • Young Adult

Substances

  • Eye Proteins
  • RNA