Elevated membrane attack complex in human choroid with high risk complement factor H genotypes

Exp Eye Res. 2011 Oct;93(4):565-7. doi: 10.1016/j.exer.2011.06.015. Epub 2011 Jun 26.


Data from human genetics, histopathology, and animal models reveal a major role for the complement system in the development of age-related macular degeneration (AMD). Genetic variations in the complement factor H (CFH) gene are associated with an elevated risk of AMD. In this study we sought to determine whether eyes from donors with a high-risk genotype (homozygosity for the histidine allele at codon 402) exhibit altered levels of membrane attack complex (MAC) in the choroid, compared to eyes with a low risk genotype (homozygosity for tyrosine). Proteins were extracted from the RPE/choroid of 18 donors (10 low risk and 8 high risk) and levels of MAC were assessed using an ELISA assay. Eyes from donors homozygous for the histidine allele showed 69% higher levels of MAC than those homozygous for the tyrosine allele (p < 0.05), independent of whether the eyes showed signs of early AMD. Our results provide evidence that high-risk CFH genotypes may affect AMD risk by increased deposition of MAC around the aging choriocapillaris.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Choroid / metabolism*
  • Complement Factor H / genetics
  • Complement Membrane Attack Complex / metabolism*
  • Enzyme-Linked Immunosorbent Assay
  • Genotype
  • Humans
  • Macular Degeneration / genetics*
  • Macular Degeneration / metabolism*
  • Polymorphism, Single Nucleotide*
  • Tissue Donors


  • CFH protein, human
  • Complement Membrane Attack Complex
  • Complement Factor H