Activation of the alternative complement pathway in vitreous is controlled by genetics in age-related macular degeneration

Invest Ophthalmol Vis Sci. 2012 Sep 25;53(10):6628-37. doi: 10.1167/iovs.12-9587.

Abstract

Purpose: To determine if the progression of age-related macular degeneration (AMD) is associated with complement activation in the eye.

Methods: Immunohistochemistry and ELISAs were used to determine the distribution, concentration, and activation of the alternative pathway complement proteases factor B (FB) and factor D (FD) and the central complement protein C3 in genotyped human postmortem donor eyes graded as having no or minimal drusen (category 1; controls), large drusen (category 3), and large drusen with advanced AMD (category 4).

Results: C3, FB, and FD were present in vitreous and Bruch's membrane choroid (BM/C) interface of the macula of eyes in all tested AMD severity categories (n = 100). C3, FB, and FD were predominantly located to the choroidal vasculature and Bruch's membrane and, together with the serum proteins transferrin and albumin, elevated in BM/C extracts of category 4 eyes (n = 23) compared with category 1 eyes (n = 24). A significant increase in FB activation was found only in vitreous of category 4 eyes (n = 23) compared with category 1 eyes (n = 25). Genetic variants of complement factor H (CFH), C3, C2, and FB associated with increased risk of AMD were correlated with alternative pathway complement activation in vitreous, but not with complement proteins in BM/C protein extracts.

Conclusions: Increased activation of the alternative complement pathway in vitreous was controlled by disease stage and genetic variation in the complement pathway, supporting a role for complement activation in AMD disease pathogenesis.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Bruch Membrane / metabolism
  • Choroid / metabolism
  • Complement Activation
  • Complement C3 / genetics
  • Complement C3 / metabolism*
  • Complement Factor B / genetics
  • Complement Factor B / metabolism*
  • Complement Factor D / genetics
  • Complement Factor D / metabolism*
  • Complement Factor H / genetics
  • Complement Pathway, Alternative / genetics*
  • Disease Progression
  • Enzyme-Linked Immunosorbent Assay
  • Female
  • Genotype
  • Humans
  • Immunohistochemistry
  • Macular Degeneration / genetics*
  • Macular Degeneration / metabolism
  • Male
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Single Nucleotide
  • Tissue Donors
  • Vitreous Body / metabolism*

Substances

  • CFH protein, human
  • Complement C3
  • Complement Factor H
  • Complement Factor D
  • Complement Factor B