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

Author

Listed:
  • 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
    Rheumatology and 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
    Imperial College)

  • Paul R. Cook

    (Sections of Imperial College
    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)

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.

Suggested Citation

  • 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. H, 2006. "Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans," Nature, Nature, vol. 439(7078), pages 851-855, February.
    • Handle: RePEc:nat:nature:v:439:y:2006:i:7078:d:10.1038_nature04489
    DOI: 10.1038/nature04489
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    Cited by:

    1. Wonkuk Kim & Derek Gordon & Jonathan Sebat & Kenny Q Ye & Stephen J Finch, 2008. "Computing Power and Sample Size for Case-Control Association Studies with Copy Number Polymorphism: Application of Mixture-Based Likelihood Ratio Test," PLOS ONE, Public Library of Science, vol. 3(10), pages 1-9, October.
    2. Nathan E Wineinger & Hemant K Tiwari, 2012. "The Impact of Errors in Copy Number Variation Detection Algorithms on Association Results," PLOS ONE, Public Library of Science, vol. 7(4), pages 1-5, April.
    3. Malka Gorfine & Boaz Goldstein & Alla Fishman & Ruth Heller & Yair Heller & Ayelet T Lamm, 2015. "Function of Cancer Associated Genes Revealed by Modern Univariate and Multivariate Association Tests," PLOS ONE, Public Library of Science, vol. 10(5), pages 1-15, May.

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