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Clin Exp Immunol. 2008 Jan;151(1):1-13.

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

Author information

1
Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain. SRdeCordoba@cib.csic.es

Abstract

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.

PMID:
18081690
PMCID:
PMC2276932
DOI:
10.1111/j.1365-2249.2007.03552.x
[Indexed for MEDLINE]
Free PMC Article

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