AuthorsMalik, Talat H
Lavin, Peter J
Goicoechea de Jorge, Elena
Vernon, Katherine A
Rose, Kirsten L
Patel, Mitali P
de Leeuw, Marcel
Neary, John J
Conlon, Peter J
Winn, Michelle P
Pickering, Matthew C
AffiliationCentre for Complement and Inflammation Research, Imperial College, London, United Kingdom. email@example.com.
MetadataShow full item record
CitationA Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy. 2012, 23 (7):1155-60 J. Am. Soc. Nephrol.
JournalJournal of the American Society of Nephrology : JASN
AbstractControlled activation of the complement system, a key component of innate immunity, enables destruction of pathogens with minimal damage to host tissue. Complement factor H (CFH), which inhibits complement activation, and five CFH-related proteins (CFHR1-5) compose a family of structurally related molecules. Combined deletion of CFHR3 and CFHR1 is common and confers a protective effect in IgA nephropathy. Here, we report an autosomal dominant complement-mediated GN associated with abnormal increases in copy number across the CFHR3 and CFHR1 loci. In addition to normal copies of these genes, affected individuals carry a unique hybrid CFHR3-1 gene. In addition to identifying an association between these genetic observations and complement-mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy.
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