Santos V C, Grecco M, Pereira K M C, Terzian C C N, Andrade L E C, Silva N P
Disciplina de Reumatologia, Universidade Federal de São Paulo, São Paulo, Brazil.
Disciplina de Hematologia, Universidade Federal de São Paulo, São Paulo, Brazil.
Lupus. 2016 Oct;25(11):1237-43. doi: 10.1177/0961203316636952. Epub 2016 Mar 4.
The objective of this study was to evaluate the association between Fc gamma receptor IIIb polymorphism and susceptibility to systemic lupus erythematosus and clinical traits of the disease.
Genomic DNA was obtained from 303 consecutive systemic lupus erythematosus patients and 300 healthy blood donors from the southeastern region of Brazil. The polymorphic region of the FCGR3B gene was sequenced and the alleles FCGR3B01, FCGR3B02 and FCGR3B*03 were analyzed.
The FCGR3B01 allele was more frequent in systemic lupus erythematosus patients (43.1%) while the FCGR3B02 allele prevailed among controls (63.7%) (P = 0.001). The FCGR3B03 allele was found equally in both groups. The FCGR3B01/01 (20.7%) and FCGR3B01/02 (41.1%) genotypes were more frequent among systemic lupus erythematosus patients (P = 0.028 and P = 0.012, respectively) while the FCGR3B02/02 genotype was more frequent in controls (45.5%) (P < 0.001). One variant of the FCGR3B01 allele previously described in Germany was found in only one control. A new variant of the FCGR3B01 allele with two substitutions (A227G/G277A) was found in one control. Three variants of the FCGR3B02 allele previously described in African-Americans, Brazilians, Chinese and Japanese were found in ten 10 patients and two controls. In addition, several single nucleotide polymorphisms at non-polymorphic positions were identified in both patients and controls.
Susceptibility to systemic lupus erythematosus was associated with the FCGR3B01 allele, as well as with the FCGR3B01/01 and FCGR3B01/*02 genotypes. No association was found between FCGR3B genotypes and clinical manifestations, disease severity or the presence of autoantibodies.
本研究旨在评估Fcγ受体IIIb基因多态性与系统性红斑狼疮易感性及该疾病临床特征之间的关联。
从巴西东南部地区连续招募的303例系统性红斑狼疮患者和300名健康献血者中获取基因组DNA。对FCGR3B基因的多态性区域进行测序，并分析FCGR3B01、FCGR3B02和FCGR3B*03等位基因。
FCGR3B01等位基因在系统性红斑狼疮患者中更为常见（43.1%），而FCGR3B02等位基因在对照组中占优势（63.7%）（P = 0.001）。FCGR3B03等位基因在两组中的分布相同。FCGR3B01/01（20.7%）和FCGR3B01/02（41.1%）基因型在系统性红斑狼疮患者中更为常见（分别为P = 0.028和P = 0.012），而FCGR3B02/02基因型在对照组中更为常见（45.5%）（P < 0.001）。先前在德国描述的FCGR3B01等位基因的一个变体仅在一名对照中发现。在一名对照中发现了FCGR3B01等位基因的一个新变体，有两个替换（A227G/G277A）。先前在非裔美国人、巴西人、中国人和日本人中描述的FCGR3B02等位基因的三个变体在10例患者和两名对照中发现。此外，在患者和对照中均鉴定出非多态性位置的几个单核苷酸多态性。
系统性红斑狼疮易感性与FCGR3B01等位基因以及FCGR3B01/01和FCGR3B01/*02基因型相关。未发现FCGR3B基因型与临床表现、疾病严重程度或自身抗体的存在之间存在关联。
