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西班牙系统性红斑狼疮患者的FcγRIIA、FcγRIIIA和FcγRIIIB基因多态性

FcgammaRIIA, FcgammaRIIIA and FcgammaRIIIB polymorphisms in Spanish patients with systemic lupus erythematosus.

作者信息

González-Escribano M F, Aguilar F, Sánchez-Román J, Núñez-Roldán A

机构信息

Servicio de Inmunologia, Hospital Universitario Virgen del Rocio, Servicio Andaluz de Salud, Seville, Spain.

出版信息

Eur J Immunogenet. 2002 Aug;29(4):301-6. doi: 10.1046/j.1365-2370.2002.00324.x.

Abstract

Linkage studies on human families suggest that receptors for the Fc fragments of immunoglobulin G (IgG) (FcgammaRs) could be implicated in the susceptibility to, or the progression of, some autoimmune diseases. In this work we analyse the possible role of polymorphic variants of FcgammaRIIA, FcgammaRIIIA and FcgammaRIIIB genes in the susceptibility to systemic lupus erythematosus, the prototype systemic autoimmune disease. A total of 276 Spanish patients (34 male and 242 female) with systemic lupus erythematosus were included in this cross-sectional study. The FcgammaRIIA-131, FcgammaRIIIA-176 and FcgammaRIIIB-NA1/NA2 polymorphisms were investigated in the patient group as well as in 194 ethnically matched controls using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS). Statistical comparisons of genotype frequencies were performed using the chi2 test. In the case of the FcgammaRIIIB-NA1/NA2 polymorphism, an increase in the frequency of homozygous NA2/NA2 in patients was found (61.2 vs. 51.0%; P = 0.03; OR = 1.5; 95% CI = 1.03-2.24), as well as a decrease in the frequency of the NA1/NA2 genotype (28 vs. 38.7%; P = 0.02; OR = 0.6; 95% CI = 0.41-0.92). These associations were independent of patient gender and HLA-DRB1 specificities. With respect to the FcgammaRIIA-131 and FcgammaRIIIA-176 polymorphisms, no differences were found between patients and controls. Patient stratification according to their lupus-related nephritis status gave similar genotypic distribution patterns in both disease categories in all the cases.

摘要

对人类家族的连锁研究表明,免疫球蛋白G(IgG)的Fc片段受体(FcγRs)可能与某些自身免疫性疾病的易感性或病情进展有关。在这项研究中,我们分析了FcγRIIA、FcγRIIIA和FcγRIIIB基因的多态性变体在系统性红斑狼疮(典型的系统性自身免疫性疾病)易感性中的可能作用。这项横断面研究共纳入了276名西班牙系统性红斑狼疮患者(34名男性和242名女性)。使用聚合酶链反应-扩增不应突变系统(PCR-ARMS)对患者组以及194名种族匹配的对照进行了FcγRIIA-131、FcγRIIIA-176和FcγRIIIB-NA1/NA2多态性的研究。使用卡方检验对基因型频率进行统计学比较。对于FcγRIIIB-NA1/NA2多态性,发现患者中纯合NA2/NA2频率增加(61.2%对51.0%;P = 0.03;OR = 1.5;95% CI = 1.03 - 2.24),以及NA1/NA2基因型频率降低(28%对38.7%;P = 0.02;OR = 0.6;95% CI = 0.41 - 0.92)。这些关联与患者性别和HLA-DRB1特异性无关。关于FcγRIIA-131和FcγRIIIA-176多态性,患者与对照之间未发现差异。根据狼疮相关肾炎状态对患者进行分层,在所有病例中,两种疾病类别中的基因型分布模式相似。

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