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The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts
  1. V Fremeaux-Bacchi2,
  2. E J Kemp1,
  3. J A Goodship1,
  4. M-A Dragon-Durey2,
  5. L Strain1,
  6. C Loirat3,
  7. H-W Deng4,
  8. T H J Goodship1
  1. 1Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
  2. 2Service d’Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, France
  3. 3Service de Nephrologie, Hôpital Robert Debré, Paris, France
  4. 4Genetics Laboratory, Osteoporosis Research Center, Creighton University Medical Center, Omaha, Nebraska, USA
  1. Correspondence to:
 Professor T H J Goodship
 The Institute of Human Genetics, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK; t.h.j.goodshipncl.ac.uk

Abstract

Background: In both familial and sporadic atypical haemolytic-uraemic syndrome (aHUS), mutations have been reported in regulators of the alternative complement pathway including factor H (CFH), membrane cofactor protein (MCP), and the serine protease factor I (IF). A characteristic feature of both MCP and CFH associated HUS is reduced penetrance and variable inheritance; one possible explanation for this is that functional changes in complement proteins act as modifiers.

Objective: To examine single nucleotide polymorphisms in both CFH and MCP genes in two large cohorts of HUS patients (Newcastle and Paris).

Results: In both cohorts there was an association with HUS for both CFH and MCP alleles. CFH and MCP haplotypes were also significantly different in HUS patients compared with controls.

Conclusions: This study suggests that there are naturally occurring susceptibility factors in CFH and MCP for the development of atypical HUS.

  • aHUS, atypical haemolytic-uraemic syndrome
  • CFH, complement factor H
  • HUS, haemolytic-uraemic syndrome
  • MCP, membrane cofactor protein
  • SNP, single nucleotide polymorphism
  • factor H
  • membrane cofactor protein
  • haemolytic-uraemic syndrome
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Footnotes

  • Competing interests: none declared

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