Department of Rheumatology, Basil Hetzel Institute, The Queen Elizabeth Hospital, Adelaide, Australia.
J Rheumatol. 2012 Nov;39(11):2142-7. doi: 10.3899/jrheum.120294. Epub 2012 Sep 1.
Immune complexes play an important role in the pathogenesis of primary Sjögren's syndrome (pSS). Crosslinking of the neutrophil-specific Fc-γ receptor 3b (FCGR3B) facilitates immune complex clearance, and copy number variation (CNV) of the FCGR3B gene is known to reduce the uptake, and potentially clearance, of circulating immune complexes. Our objective was to determine whether FCGR3B CNV is a risk factor for pSS.
This was a cross-sectional study of patients with established pSS (n = 174) and population-matched controls (n = 162). FCGR3B CNV was determined by a quantitative real-time polymerase chain reaction assay, using genomic DNA as template and Taqman chemistry. Reactions were performed as a duplex, with RNAse P as the reference gene. Clinical and serological data were analyzed for their association with FCGR3B copy number (CN).
Low FCGR3B CN (< 2 copies) was a risk factor for pSS in this cohort (p = 0.016), and combined results from this and a previous study yielded an overall OR of 2.3 (95% CI 1.3, 3.9, p = 0.003). Among patients with pSS in our cohort, low FCGR3B CN was not associated with anti-Ro ± La autoantibodies, but was associated with lower rheumatoid factor titers (p = 0.001) and serum IgG levels (p = 0.031).
We confirmed that, similarly to other systemic autoimmune diseases, FCGR3B CN is a genetic susceptibility factor for pSS. As in rheumatoid arthritis, the mechanism does not appear to be related to seropositivity for characteristic autoantibodies.
免疫复合物在原发性干燥综合征(pSS)的发病机制中起重要作用。中性粒细胞特异性 Fc-γ 受体 3b(FCGR3B)的交联有助于免疫复合物的清除,并且已知 FCGR3B 基因的拷贝数变异(CNV)会降低循环免疫复合物的摄取,并且可能会降低其清除率。我们的目的是确定 FCGR3B CNV 是否是 pSS 的危险因素。
这是一项横断面研究,纳入了 174 例确诊的 pSS 患者和 162 名人群匹配的对照者。使用基因组 DNA 作为模板和 Taqman 化学法,通过实时定量聚合酶链反应(PCR)测定 FCGR3B CNV。反应作为双管进行,以 RNAse P 作为参照基因。分析临床和血清学数据与 FCGR3B 拷贝数(CN)之间的相关性。
在该队列中,低 FCGR3B CN(<2 拷贝)是 pSS 的危险因素(p = 0.016),并且来自本研究和之前研究的综合结果显示,总体 OR 为 2.3(95%CI 1.3, 3.9,p = 0.003)。在我们队列中的 pSS 患者中,低 FCGR3B CN 与抗 Ro ± La 自身抗体无关,但与较低的类风湿因子滴度(p = 0.001)和血清 IgG 水平(p = 0.031)相关。
我们证实,与其他系统性自身免疫性疾病类似,FCGR3B CN 是 pSS 的遗传易感性因素。与类风湿关节炎一样,其机制似乎与特征性自身抗体的血清阳性无关。