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FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity |
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| 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 |
| Institution: | Physiological Genomics and Medicine Group, UK Medical Research Council (MRC) Clinical Sciences Centre, Imperial College, London W12 0NN, UK. |
| 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. |
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