Complement Component C3 Variant (R102G) and the Risk of Neovascular Age-Related Macular Degeneration in a Tunisian Population

Klin Monbl Augenheilkd. 2017 Apr;234(4):478-482. doi: 10.1055/s-0043-104419. Epub 2017 May 3.

Abstract

Purpose To explore the association between the polymorphism (S/F) p.R102G in the complement component 3 (C3) gene and age-related macular degeneration (AMD) in a Tunisian population. Methods The molecular study was performed by polymerase chain reaction using sequence-specific primers (PCR-SSP) in 207 control subjects free of any eye disease (fundus normal) and 145 patients with exudative AMD. The CH50 activity and quantification of C3 and C4 have been made by technical home method and nephelometry, respectively. Results The prevalence of C3 GG genotype polymorphism was significantly higher in AMD patients compared to controls (OR: 2.41, IC 95% [1.90-3.05], p = 0.0007). However, no correlation was found between this allelic variant and the type of neovascularization. Similarly, there is no association between this polymorphism and the presence of functional and/or quantitative hypocomplementemia. Conclusions The C3 GG genotype of the gene could be a susceptibility factor for AMD in the Tunisian population. However, it does not seem to influence the clinical profile of the disease.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Complement C3 / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Incidence
  • Macular Degeneration / diagnosis
  • Macular Degeneration / epidemiology*
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Mutation / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Reproducibility of Results
  • Risk Assessment / methods
  • Sensitivity and Specificity
  • Tunisia / epidemiology

Substances

  • C3 protein, human
  • Complement C3
  • Genetic Markers