A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy.

Hdl Handle:
http://hdl.handle.net/10147/237977
Title:
A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy.
Authors:
Malik, 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
Affiliation:
Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom. matthew.pickering@imperial.ac.uk.
Citation:
A Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy. 2012, 23 (7):1155-60 J. Am. Soc. Nephrol.
Journal:
Journal of the American Society of Nephrology : JASN
Issue Date:
Jul-2012
URI:
http://hdl.handle.net/10147/237977
DOI:
10.1681/ASN.2012020166
PubMed ID:
22626820
Additional Links:
http://www.ncbi.nlm.nih.gov/pubmed?term=A%20Hybrid%20CFHR3-1%20Gene%20Causes%20Familial%20C3%20Glomerulopathy
Abstract:
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.
Item Type:
Article
Language:
en
ISSN:
1533-3450

Full metadata record

DC FieldValue Language
dc.contributor.authorMalik, Talat Hen_GB
dc.contributor.authorLavin, Peter Jen_GB
dc.contributor.authorGoicoechea de Jorge, Elenaen_GB
dc.contributor.authorVernon, Katherine Aen_GB
dc.contributor.authorRose, Kirsten Len_GB
dc.contributor.authorPatel, Mitali Pen_GB
dc.contributor.authorde Leeuw, Marcelen_GB
dc.contributor.authorNeary, John Jen_GB
dc.contributor.authorConlon, Peter Jen_GB
dc.contributor.authorWinn, Michelle Pen_GB
dc.contributor.authorPickering, Matthew Cen_GB
dc.date.accessioned2012-08-09T13:43:11Z-
dc.date.available2012-08-09T13:43:11Z-
dc.date.issued2012-07-
dc.identifier.citationA Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy. 2012, 23 (7):1155-60 J. Am. Soc. Nephrol.en_GB
dc.identifier.issn1533-3450-
dc.identifier.pmid22626820-
dc.identifier.doi10.1681/ASN.2012020166-
dc.identifier.urihttp://hdl.handle.net/10147/237977-
dc.description.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.en_GB
dc.language.isoenen
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pubmed?term=A%20Hybrid%20CFHR3-1%20Gene%20Causes%20Familial%20C3%20Glomerulopathyen_GB
dc.rightsArchived with thanks to Journal of the American Society of Nephrology : JASNen_GB
dc.titleA Hybrid CFHR3-1 Gene Causes Familial C3 Glomerulopathy.en_GB
dc.typeArticleen
dc.contributor.departmentCentre for Complement and Inflammation Research, Imperial College, London, United Kingdom. matthew.pickering@imperial.ac.uk.en_GB
dc.identifier.journalJournal of the American Society of Nephrology : JASNen_GB
dc.description.provinceLeinsteren

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