Department of Human Genetics, University of Chicago, Chicago, IL, 60637, USA.
Department of Medicine, Section of Pulmonary and Critical Care Medicine, and the Committee on Immunology, University of Chicago, Chicago, IL, 60637, USA.
Genes Immun. 2019 Jul;20(6):462-472. doi: 10.1038/s41435-018-0038-8. Epub 2018 Jul 6.
The low affinity Fcγ receptor, FcγRIIA, harbors a common missense mutation, rs1801274 (G>A, Arg131His) that modifies binding affinity to human IgG2 and mouse IgG1 antibodies and is associated with increased risk of autoimmune disease. Despite the important role of the Arg131His variant, little is understood about heterozygous genotype effects on global gene expression and cytokine production during an FcγR-dependent response. To address this gap in knowledge, we treated human whole-blood samples from 130 individuals with mouse IgG1 anti-CD3 and anti-CD28 antibodies and characterized the genome-wide gene expression profiles and cytokine production among individuals stratified by rs1801274 genotype. Our analysis revealed that the levels of four cytokines (IFNγ, IL-12, IL-2, TNFα) and global gene expression patterns differed between all three genotype classes. Surprisingly, the heterozygotes showed suboptimal T cell activation compared to cells from individuals homozygous for the higher-affinity FcγRIIA allele (GG; Arg/Arg). The results of this study demonstrate that IgG response varies among all rs1801274 genotype classes and results in profound differences in both cytokine responses and gene expression patterns in blood leukocytes. Because even heterozygotes showed dampened global responses, our data may provide insight into the heterogeneity of outcomes in cytokine release assays and immunotherapy efficacy.
低亲和力 Fcγ 受体 FcγRIIA 携带一个常见的错义突变 rs1801274(G>A,Arg131His),该突变改变了与人类 IgG2 和小鼠 IgG1 抗体的结合亲和力,并与自身免疫性疾病的风险增加相关。尽管 Arg131His 变体的作用很重要,但对于杂合基因型对 FcγR 依赖性反应中全局基因表达和细胞因子产生的影响,人们知之甚少。为了填补这一知识空白,我们用抗 CD3 和抗 CD28 的小鼠 IgG1 抗体处理了 130 名个体的全血样本,并对 rs1801274 基因型分层的个体中的全基因组基因表达谱和细胞因子产生进行了特征描述。我们的分析表明,四种细胞因子(IFNγ、IL-12、IL-2、TNFα)的水平和全基因组基因表达模式在所有三种基因型类别之间存在差异。令人惊讶的是,与 FcγRIIA 等位基因(GG;Arg/Arg)纯合个体相比,杂合子的 T 细胞激活水平较差。这项研究的结果表明,IgG 反应在所有 rs1801274 基因型类别中均存在差异,导致血液白细胞中的细胞因子反应和基因表达模式存在显著差异。由于即使是杂合子也表现出整体反应减弱,因此我们的数据可能为细胞因子释放试验和免疫疗法疗效的结果异质性提供了一些见解。