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

Robert F Mullins1, Aaron D Dewald, Luan M Streb

  • 1University of Iowa, 4135E MERF, 375 Newton Rd, Iowa City, IA 52242, United States. robert-mullins@uiowa.edu

Experimental Eye Research
|July 7, 2011
PubMed

Insights

High-risk complement factor H (CFH) genotypes are linked to increased membrane attack complex (MAC) in the choroid, potentially driving age-related macular degeneration (AMD) development.

Area of Science:

  • Ophthalmology
  • Immunology
  • Genetics

Background:

  • The complement system plays a significant role in age-related macular degeneration (AMD) pathogenesis.
  • Genetic variations in the complement factor H (CFH) gene are established risk factors for AMD.

Purpose of the Study:

  • To investigate whether high-risk CFH genotypes correlate with altered levels of membrane attack complex (MAC) in the choroid.
  • To compare MAC levels in donors with high-risk (homozygous histidine) versus low-risk (homozygous tyrosine) CFH genotypes.

Main Methods:

  • Protein extraction from the retinal pigment epithelium (RPE)/choroid of 18 human eye donors.
  • Quantification of MAC levels using an enzyme-linked immunosorbent assay (ELISA).
  • Genotyping of donors for CFH codon 402 variations.

Main Results:

  • Eyes with the high-risk CFH genotype (homozygous histidine) exhibited 69% higher MAC levels compared to the low-risk genotype (homozygous tyrosine).
  • This difference was observed regardless of early AMD signs.
  • Statistical significance was established (p < 0.05).

Conclusions:

  • High-risk CFH genotypes are associated with increased MAC deposition in the aging choriocapillaris.
  • This elevated MAC deposition may contribute to the increased risk of developing AMD.
  • The findings elucidate a potential mechanism linking CFH genetics to AMD pathogenesis.

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