Browse by author
Lookup NU author(s): Dr Veronique Fremaux-Bacchi, Professor Judith Goodship, Dr Lisa Turnbull, Professor Tim Goodship
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
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.
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
Altmetrics provided by Altmetric