Document Detail

Is complement factor H a susceptibility factor for IgA nephropathy?
MedLine Citation:
PMID:  19162324     Owner:  NLM     Status:  MEDLINE    
There is substantial evidence to suggest that complement activation plays a pivotal role in the pathogenesis of IgA nephropathy. Mesangial C3 deposition is seen in approximately 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.
Matthew Edey; Lisa Strain; Roy Ward; Saeed Ahmed; Trevor Thomas; Timothy H J Goodship
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-01-21
Journal Detail:
Title:  Molecular immunology     Volume:  46     ISSN:  1872-9142     ISO Abbreviation:  Mol. Immunol.     Publication Date:  2009 Apr 
Date Detail:
Created Date:  2009-03-25     Completed Date:  2009-06-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7905289     Medline TA:  Mol Immunol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1405-8     Citation Subset:  IM    
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
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MeSH Terms
Cohort Studies
Complement C3 / analysis
Complement C4 / analysis
Complement Factor H / analysis,  genetics
DNA Mutational Analysis
Gene Frequency
Genetic Predisposition to Disease*
Glomerulonephritis, IGA / blood,  genetics*,  pathology
Middle Aged
Polymorphism, Single Nucleotide / physiology
Young Adult
Reg. No./Substance:
0/Complement C3; 0/Complement C4; 0/complement factor H, human; 80295-65-4/Complement Factor H

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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