Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H

Clin Exp Immunol. 2008 Jan;151(1):1-13. doi: 10.1111/j.1365-2249.2007.03552.x.


Factor H is an abundant plasma glycoprotein that plays a critical role in the regulation of the complement system in plasma and in the protection of host cells and tissues from damage by complement activation. Several recent studies have described the association of genetic variations of the complement factor H gene (CFH) with atypical haemolytic uraemic syndrome (aHUS), age-related macular degeneration (AMD) and membranoproliferative glomerulonephritis (MPGN). This review summarizes our current knowledge of CFH genetics and examines the CFH genotype-phenotype correlations that are helping to understand the molecular basis underlying these renal and ocular pathologies.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Complement Activation
  • Complement C3 Convertase, Alternative Pathway
  • Complement Factor H / genetics
  • Complement Factor H / physiology
  • Genotype
  • Glomerulonephritis, Membranoproliferative / immunology*
  • Hemolytic-Uremic Syndrome / immunology*
  • Humans
  • Macular Degeneration / immunology*
  • Mutation
  • Phenotype


  • CFH protein, human
  • Complement Factor H
  • Complement C3 Convertase, Alternative Pathway