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Lookup NU author(s): Dr Matthew Edey, Dr Lisa Turnbull, Professor Tim Goodship
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There is substantial evidence to suggest that complement activation plays a pivotal role in the pathogenesis of IgA nephropathy. Mesangial 0 deposition is seen in similar to 90% of patients and polymeric IgA has been shown to activate the alternative and lectin pathways. In addition there have been reports of deficiency and mutations in the serum complement regulator factor H (CFH) in association with IgA nephropathy. In this study we have examined the hypothesis that CFH is a susceptibility factor for IgA nephropathy. In 46 IgA nephropathy patients we undertook genotyping of three CFH SNPS (rs3753394, rs3753396 and rs1065489). There was no significant difference in the allele frequency of these 3 SNPs between the patients and normal controls. In the same group of patients we undertook mutation screening of CFH exons 18-23 using direct sequencing and found no abnormalities. All the patients had a normal serum factor H concentration. In this small cohort of IgA nephropathy patients we have not found evidence to support the hypothesis that factor H is a major susceptibility factor for the disease. (C) 2008 Elsevier Ltd. All rights reserved.
Author(s): Edey M, Strain L, Ward R, Ahmed S, Thomas T, Goodship TH
Publication type: Article
Publication status: Published
Journal: Molecular Immunology
Year: 2009
Volume: 46
Issue: 7
Pages: 1405-1408
ISSN (print): 0161-5890
ISSN (electronic): 1872-9142
Publisher: Pergamon
URL: http://dx.doi.org/10.1016/j.molimm.2008.12.002
DOI: 10.1016/j.molimm.2008.12.002
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