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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Competing interests: none declared
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