Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.
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.
de Córdoba
S Rodríguez
SR
Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain. SRdeCordoba@cib.csic.es
de Jorge
E Goicoechea
EG
D003167:Complement Activation; D051561:Complement C3 Convertase, Alternative Pathway; D017242:Complement Factor H / Q000235:genetics / Q000502:physiology; D005838:Genotype; D015432:Glomerulonephritis, Membranoproliferative / Q000276:immunology*; D006463:Hemolytic-Uremic Syndrome / Q000276:immunology*; D006801:Humans; D008268:Macular Degeneration / Q000276:immunology*; D009154:Mutation; D010641:Phenotype
C493495:CFH protein, human; D017242:Complement Factor H; D051561:Complement C3 Convertase, Alternative Pathway