FCGR3B基因拷贝数变异与全身性自身免疫的易感性相关，但与器官特异性自身免疫无关。
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.
作者信息
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
机构信息
Physiological Genomics and Medicine Group, UK Medical Research Council (MRC) Clinical Sciences Centre, Imperial College, London W12 0NN, UK.
出版信息
Nat Genet. 2007 Jun;39(6):721-3. doi: 10.1038/ng2046. Epub 2007 May 21.
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.
摘要
基因拷贝数的自然变异越来越被认为是遗传复杂疾病易感性的一个可遗传来源。在此，我们报告了FCGR3B拷贝数与系统性红斑狼疮风险（P = 2.7×10⁻⁸）、显微镜下多血管炎（P = 2.9×10⁻⁴）以及来自英国（P = 3×10⁻³）和法国（P = 1.1×10⁻⁴）的两个独立队列中的韦格纳肉芽肿之间存在强关联。我们在器官特异性的格雷夫斯病或艾迪生病中未观察到这种关联。我们的研究结果表明，低FCGR3B拷贝数，尤其是完全FCGR3B缺乏，在系统性自身免疫的发展中起关键作用。
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