| Literature DB >> 17529978 |
Manuela Fanciulli1, Penny J Norsworthy, Enrico Petretto, Rong Dong, Lorraine Harper, Lavanya Kamesh, Joanne M Heward, Stephen C L Gough, Adam de Smith, Alexandra I F Blakemore, Philippe Froguel, Catherine J Owen, Simon H S Pearce, Luis Teixeira, Loic Guillevin, Deborah S Cunninghame Graham, Charles D Pusey, H Terence Cook, Timothy J Vyse, Timothy J Aitman.
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.Entities:
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Year: 2007 PMID： 17529978 PMCID： PMC2742197 DOI： 10.1038/ng2046
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330