Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients.
Association of FCGR3A and FCGR3B copy number variations with systemic lupus erythematosus and rheumatoid arthritis in Taiwanese patients.
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DOI：
10.1002/art.38813
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发表时间：
2014-11
影响因子：
13.3
通讯作者：
Wu, Jianming
中科院分区：
文献类型：
--
作者：
Chen, Ji-Yih;Wang, Chin-Man;Chang, Su-Wei;Cheng, Ching-Hui;Wu, Yeong-Jian Jan;Lin, Jing-Chi;Yang, Bing;Ho, Huei-Huang;Wu, Jianming
探讨FCGR 3A和FCGR 3B基因的拷贝数变异（CNVs）是否与系统性红斑狼疮（SLE）和类风湿性关节炎（RA）相关。使用定制的TaqMan CNV测定法，在846名SLE患者、948名RA患者和1，420名健康对照受试者中测定FCGR 3A和FCGR 3B CNV基因型。比较健康对照组和患者之间以及根据临床特征分层的患者之间的FCGR 3A和FCGR 3B CNV基因型。FCGR 3A拷贝数低（<2）与SLE显著相关（对于<2个拷贝与2个拷贝，P = 5.06 × 10−4，错误发现率校正P [PFDR] = 0.001，比值比[OR] 3.26，95%置信区间[95%CI] 1.68−6.35）和RA（对于<2个拷贝与2个拷贝，P = 5.83 × 10−4，PFDR = 0.0012，OR 2.82，95% CI 1.56−5.1）。低FCGR 3B拷贝数也与SLE显著相关（<2拷贝vs 2拷贝，P = 0.0032，PFDR = 0.0032，OR 1.59，95%CI 1.17 - 2.18）。值得注意的是，高（>2）FCGR 3A拷贝数也与SLE相关（>2拷贝对2拷贝，P = 0.003，PFDR = 0.0061，OR 1.6，95% CI 1.17 - 2.18）。此外，与健康对照组相比，FCGR 3A低拷贝数基因型在SLE患者亚组（溃疡、关节炎、皮疹、盘状皮疹、光敏性、肾炎、白细胞减少、血小板减少、补体水平降低和自身抗体阳性）和RA患者亚组（类风湿因子阳性）中显著富集。FCGR 3B低拷贝数基因型在伴有溃疡、皮疹、盘状皮疹、光敏性、腹水、肾炎、补体水平下降和抗双链DNA抗体阳性的SLE患者中也显著富集。然而，FCGR 3B CNVs与RA易感性（<2个拷贝数与2个拷贝数，P = 0.3584，OR 1.15，95%CI 0.85-1.55）和临床特征无关。在台湾个体中，FCGR 3A拷贝数低是SLE和RA的常见风险因素，而FCGR 3B拷贝数低则会导致SLE而非RA的风险。
To determine whether copy number variations (CNVs) in FCGR3A and FCGR3B are associated with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Taiwanese individuals. FCGR3A and FCGR3B CNV genotypes were determined in 846 patients with SLE, 948 patients with RA, and 1,420 healthy control subjects, using custom TaqMan CNV assays. The FCGR3A and FCGR3B CNV genotypes were compared between healthy control subjects and patients and among patients stratified according to clinical characteristics. A low (<2) FCGR3A copy number was significantly associated with SLE (for <2 copies versus 2 copies, P = 5.06 × 10−4, false discovery rate–corrected P [PFDR] = 0.001, odds ratio [OR] 3.26, 95% confidence interval [95% CI] 1.68−6.35) and RA (for <2 copies versus 2 copies, P = 5.83 × 10−4, PFDR = 0.0012, OR 2.82, 95% CI 1.56−5.1). A low FCGR3B copy number was also significantly associated with SLE (for <2 copies versus 2 copies, P = 0.0032, PFDR = 0.0032, OR 1.59, 95% CI 1.17−2.18). Notably, a high (>2) FCGR3A copy number was also associated with SLE (for >2 copies versus 2 copies, P = 0.003, PFDR = 0.0061, OR 1.6, 95% CI 1.17−2.18). Additionally, the FCGR3A low copy number genotype was significantly enriched in subsets of patients with SLE (those with ulcer, arthritis, rash, discoid rash, photosensitivity, nephritis, leukopenia, thrombocytopenia, depressed complement levels, and autoantibody positivity) and patients with RA (those positive for rheumatoid factor) compared with healthy control subjects. The FCGR3B low copy number genotype was also significantly enriched in SLE patients with ulcer, rash, discoid rash, photosensitivity, ascites, nephritis, complement level depression, and anti–double-stranded DNA antibody positivity compared with control subjects. However, FCGR3B CNVs were not associated with RA susceptibility (for <2 copy numbers versus 2 copy numbers, P = 0.3584, OR 1.15, 95% CI 0.85–1.55) and clinical characteristics. In Taiwanese individuals, a low FCGR3A copy number is a common risk factor for SLE and RA, while a low FCGR3B copy number confers a risk of SLE but not RA.
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