Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans

Timothy J. Aitman (), Rong Dong, Timothy J. Vyse, Penny J. Norsworthy, Michelle D. Johnson, Jennifer Smith, Jonathan Mangion, Cheri Roberton-Lowe, Amy J. Marshall, Enrico Petretto, Matthew D. Hodges, Gurjeet Bhangal, Sheetal G. Patel, Kelly Sheehan-Rooney, Mark Duda, Paul R. Cook, David J. Evans, Jan Domin, Jonathan Flint, Joseph J. Boyle, Charles D. Pusey and H. Terence Cook ()
Additional contact information
Timothy J. Aitman: Sections of Imperial College
Rong Dong: Sections of Imperial College
Timothy J. Vyse: Rheumatology and Imperial College
Penny J. Norsworthy: Sections of Imperial College
Michelle D. Johnson: Sections of Imperial College
Jennifer Smith: Imperial College
Jonathan Mangion: Sections of Imperial College
Cheri Roberton-Lowe: Sections of Imperial College
Amy J. Marshall: Sections of Imperial College
Enrico Petretto: Sections of Imperial College
Matthew D. Hodges: Sections of Imperial College
Gurjeet Bhangal: Imperial College
Sheetal G. Patel: Sections of Imperial College
Kelly Sheehan-Rooney: Sections of Imperial College
Mark Duda: Sections of Imperial College
Paul R. Cook: Sections of Imperial College
David J. Evans: Imperial College
Jan Domin: Imperial College
Jonathan Flint: Wellcome Trust Centre for Human Genetics
Joseph J. Boyle: Imperial College
Charles D. Pusey: Imperial College
H. Terence Cook: Imperial College

Nature, 2006, vol. 439, issue 7078, 851-855

Abstract: Too much of a good thing? Glomerulonephritis is a kidney inflammation that occurs alone or as part of other conditions, including the autoimmune disorder lupus. A novel mutation has now been identified as the cause of the disease in a rat model. The mutation affects the Fcgr3 immunoglobulin receptor, but it does not produce a defective receptor. Rather, too many copies of an otherwise normal gene are produced. A similar gene-number defect was then detected in a subset of human systemic lupus erythematosus patients with a kidney inflammation. In these patients an equivalent receptor gene, FCGR3B, is present at a low copy number. Disease seems to result when copy number is altered in either direction, so receptor levels must need to be very finely tuned.

Date: 2006
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DOI: 10.1038/nature04489

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