Vigato-Ferreira Isabel Cristina Costa, Toller-Kawahisa Juliana Escher, Pancoto João Alexandre Trés, Mendes-Junior Celso Teixeira, Martinez Edson Zangiacomi, Donadi Eduardo Antônio, Louzada-Júnior Paulo, Del Lama José Eduardo Cavalcanti, Marzocchi-Machado Cleni Mara
Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Faculdade de Ciências Farmacêuticas de Ribeirão Preto, Universidade de São Paulo , Ribeirão Preto-SP , Brasil .
Autoimmunity. 2014 Nov;47(7):451-8. doi: 10.3109/08916934.2014.921809. Epub 2014 Jun 4.
In this study, we aimed to investigate whether the distribution of the FcγRIIa and FcγRIIIb polymorphisms determines susceptibility to systemic lupus erythematosus (SLE) and acts as predictors of SLE clinical manifestations in the Brazilian patients. A total of 157 patients that fulfilled the American College of Rheumatology classification criteria for SLE and 160 healthy volunteers were included in this study. FCGR2A and FCGR3B genotypes were determined by polymerase chain reaction-based allotyping methods with allele-specific primers; the clinical features were obtained from the patients' official medical records. In the case of FcγRIIa polymorphism, it was observed association of the allele FCGR2A-R-131 (p = 0.02, odds ratio (OR)=1.44) and genotype RR-131 (p = 0.03, OR = 2.09) with SLE. These associations were higher with allele (p < 0.01, OR = 1.67) as well genotype (p = 0.01, OR = 2.85) when lupus nephritis was considered. In contrast, the allele FCGR2A-H-131 was associated with susceptibility to arthritis and anti-DNA antibodies (p = 0.05 for both). As for FcγRIIIb polymorphism, skewing did not differ significantly between patients and controls, however the genotype FCGR3B0202 was associated with susceptibility to arthritis (p = 0.02) and malar rash (p = 0.03), but no association with nephritis was found. The results demonstrate that FcγRIIa polymorphism is associated with susceptibility to SLE in Brazilian patients, whereas for FcγRIIIb polymorphism no association was found. However, notably, both polymorphisms present allelic variants that influence the clinical manifestations and may contribute to the pathogenesis of the disease. In addition, to our knowledge, this is the first study considering the frequency of FcγRIIIb polymorphism in Brazilian SLE patients.
在本研究中，我们旨在调查FcγRIIa和FcγRIIIb基因多态性的分布是否决定巴西患者患系统性红斑狼疮（SLE）的易感性，并作为SLE临床表现的预测指标。本研究共纳入了157例符合美国风湿病学会SLE分类标准的患者和160名健康志愿者。采用基于聚合酶链反应的基因分型方法，使用等位基因特异性引物确定FCGR2A和FCGR3B基因型；临床特征从患者的官方病历中获取。对于FcγRIIa基因多态性，观察到等位基因FCGR2A-R-131（p = 0.02，比值比（OR）=1.44）和基因型RR-131（p = 0.03，OR = 2.09）与SLE相关。当考虑狼疮肾炎时，这些关联在等位基因（p < 0.01，OR = 1.67）和基因型（p = 0.01，OR = 2.85）方面更高。相比之下，等位基因FCGR2A-H-131与关节炎易感性和抗DNA抗体相关（两者p均 = 0.05）。至于FcγRIIIb基因多态性，患者和对照组之间的偏态分布无显著差异，然而基因型FCGR3B0202与关节炎易感性（p = 0.02）和颧部皮疹（p = 0.03）相关，但未发现与肾炎相关。结果表明，FcγRIIa基因多态性与巴西患者患SLE的易感性相关，而对于FcγRIIIb基因多态性未发现关联。然而，值得注意的是，两种多态性均存在影响临床表现并可能促成疾病发病机制的等位基因变体。此外，据我们所知，这是第一项考虑巴西SLE患者中FcγRIIIb基因多态性频率的研究。
