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. firstname.lastname@example.org.
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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- Authors: Zhu L, Zhai YL, Wang FM, Hou P, Lv JC, Xu DM, Shi SF, Liu LJ, Yu F, Zhao MH, Novak J, Gharavi AG, Zhang H
- Issue date: 2015 May
- Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.
- Authors: Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, Ren H, Wang W, Zhang H, Chen N, Gharavi AG
- Issue date: 2016 Oct
- Deletion Variants of <i>CFHR1</i> and <i>CFHR3</i> Associate with Mesangial Immune Deposits but Not with Progression of IgA Nephropathy.
- Authors: Jullien P, Laurent B, Claisse G, Masson I, Dinic M, Thibaudin D, Berthoux F, Alamartine E, Mariat C, Maillard N
- Issue date: 2018 Feb
- Copy number variation in the complement factor H-related genes and age-related macular degeneration.
- Authors: Kubista KE, Tosakulwong N, Wu Y, Ryu E, Roeder JL, Hecker LA, Baratz KH, Brown WL, Edwards AO
- Issue date: 2011
- An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
- Authors: Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C
- Issue date: 2010 Dec 1