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- Title
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.
- Authors
Fanciulli, Manuela; Norsworthy, Penny J; Petretto, Enrico; Dong, Rong; Harper, Lorraine; Kamesh, Lavanya; Heward, Joanne M; Gough, Stephen C L; de Smith, Adam; Blakemore, Alexandra I F; Froguel, Philippe; Owen, Catherine J; Pearce, Simon H S; Teixeira, Luis; Guillevin, Loic; Graham, Deborah S Cunninghame; Pusey, Charles D; Cook, H Terence; Vyse, Timothy J; Aitman, Timothy J
- Abstract
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 x 10(-8)), microscopic polyangiitis (P = 2.9 x 10(-4)) and Wegener's granulomatosis in two independent cohorts from the UK (P = 3 x 10(-3)) and France (P = 1.1 x 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.
- Publication
Nature genetics, 2007, Vol 39, Issue 6, p721
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng2046