Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome

Mol Immunol. 2007 Mar;44(7):1704-8. doi: 10.1016/j.molimm.2006.08.004. Epub 2006 Sep 26.


Several mutations in the CFH gene have been described in non-Shiga-toxin-associated haemolytic uraemic syndrome (non-Stx-HUS), a rare syndrome characterized by haemolytic anaemia, thrombocytopenia and acute renal failure. Mutations in genes encoding other complement regulatory proteins, membrane cofactor protein (CD46) and complement factor I (CFI), were also involved in the pathogenesis of the disease. Anyway, mutations in the three genes account for no more than 50% of cases of non-Stx-HUS. Human complement factor H related 5 (CFHR5) is a recently characterised member of the human complement factor H (CFH) family that has been found as a component of immune deposits in human kidney with sclerotic lesions from different causes. CFHR5 possesses cofactor activity and has been proposed to play a role in complement regulation in the glomerulus. We screened CFHR5 gene for variations potentially involved in the aetiology of HUS. Forty-five patients with HUS and 80 controls were analysed. Altogether, 5 genetic variants in CFHR5 were found in overall 9/45 HUS patients and in 4/80 controls. Statistical analysis showed that allelic variants in CFHR5 were prefentially associated with HUS. Based on these data, we conclude that, though not causative, CFHR5 genetic alterations may play a secondary role in the pathogenesis of HUS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Blood Proteins / genetics*
  • Complement C1 / genetics
  • Complement System Proteins
  • DNA Mutational Analysis
  • Gene Frequency
  • Hemolytic-Uremic Syndrome / genetics*
  • Humans
  • Mutation
  • Pedigree
  • Polymorphism, Single-Stranded Conformational


  • Blood Proteins
  • CFHR5 protein, human
  • Complement C1
  • Complement System Proteins