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FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity

Lookup NU author(s): Dr Kate Owen, Professor Simon PearceORCiD



Naturally occurring variation in gene copy number is increasingly recognized as a heritable source of susceptibility to genetically complex diseases. Here we report strong association between FCGR3B copy number and risk of systemic lupus erythematosus (P = 2.7 × 10-8), microscopic polyangiitis (P = 2.9 × 10-4) and Wegener's granulomatosis in two independent cohorts from the UK (P = 3 × 10-3) and France (P = 1.1 × 10-4). We did not observe this association in the organ-specific Graves' disease or Addison's disease. Our findings suggest that low FCGR3B copy number, and in particular complete FCGR3B deficiency, has a key role in the development of systemic autoimmunity. © 2007 Nature Publishing Group.

Publication metadata

Author(s): Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SCL, De Smith A, Blakemore AIF, Froguel P, Owen CJ, Pearce SHS, Teixeira L, Guillevin L, Graham DSC, Pusey CD, Cook HT, Vyse TJ, Aitman TJ

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2007

Volume: 39

Issue: 6

Pages: 721-723

Print publication date: 01/05/2007

ISSN (print): 1061-4036

ISSN (electronic): 1546-1718

Publisher: Nature Publishing


DOI: 10.1038/ng2046

PubMed id: 17529978


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