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Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS.

Lookup NU author(s): Dr Luca Ermini, Professor Tim Goodship, Dr Lisa Turnbull, Professor Heather Cordell, Dr Veronique Fremaux-Bacchi, Professor Neil SheerinORCiD


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It is well established that common genetic variants in CFH, CD46 and the CFHRs are additional risk factors for the development of aHUS. To examine the hypothesis that common variants in other complement genes have a similar effect we genotyped 501 SNPs in 47 complement genes in 94 aHUS patients from Newcastle, 126 aHUS patients from Paris, 374 UK controls and 165 French controls. We replicated the associations in CFH, CD46 and the CFHRs but found no association with any other complement gene. The strongest associations replicated in both cohorts were found for four SNPs within CD46 (p-value <10(-3)) and five SNPs within CFH(p-value <5 x 10(-3)). Significant replicable associations with single SNPs in CFHR2, CFHR4 and an intergenic SNP (CR1-CD46) were also found. Analysis of the Paris cohort showed that the association with CD46 SNPs was only present in those patients with complement mutations. Haplotype analysis showed at-risk and protective haplotypes in both CD46 and CFH. The CD46 haplotype was only disease-associated in those patients with mutations. (C) 2011 Elsevier Ltd. All rights reserved.

Publication metadata

Author(s): Ermini L, Goodship THJ, Strain L, Weale ME, Sacks SH, Cordell HJ, Fremeaux-Bacchi V, Sheerin NS

Publication type: Article

Publication status: Published

Journal: Molecular Immunology

Year: 2012

Volume: 49

Issue: 4

Pages: 640-648

Print publication date: 05/12/2011

ISSN (print): 0161-5890

ISSN (electronic): 1872-9142

Publisher: Pergamon


DOI: 10.1016/j.molimm.2011.11.003

PubMed id: 22153652


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Funder referenceFunder name
National Institute of Health Research of England
076113/C/04/ZWellcome Trust
G0701325Medical Research Council
WT061858Juvenile Diabetes Research Foundation