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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

Lookup NU author(s): Dr Veronique Fremaux-Bacchi, Professor Judith Goodship, Dr Lisa Turnbull, Professor Tim Goodship

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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.

Publication metadata

Author(s): Fremeaux-Bacchi V, Kemp EJ, Goodship JA, Dragon-Durey M-A, Strain L, Loirat C, Deng H-W, Goodship THJ

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2005

Volume: 42

Issue: 11

Pages: 852-856

Print publication date: 01/11/2005

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ Group

URL: http://dx.doi.org/10.1136/jmg.2005.030783

DOI: 10.1136/jmg.2005.030783

PubMed id: 15784724

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