Open AccessA Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy
Author(s) -
Talat H. Malik,
Peter Lavin,
Elena Goicoechea de Jorge,
Katherine A. Ver,
Kirsten L. Rose,
Mitali Patel,
Marcel A. de Leeuw,
John J Neary,
Peter J. Conlon,
Michelle P. Winn,
Matthew C. Pickering
Publication year - 2012
Publication title -
journal of the american society of nephrology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.451
H-Index - 279
eISSN - 1533-3450
pISSN - 1046-6673
DOI - 10.1681/asn.2012020166
Subject(s) - factor h , biology , alternative complement pathway , complement system , complement component 5 , innate immune system , immunology , nephropathy , gene , genetics , immune system , diabetes mellitus , endocrinology
Controlled 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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