Multiple genome-wide association studies have shown that the single-nucleotide polymorphism (SNP) rs2281808 TT variant, present within the signal regulatory protein gamma (SIRPG) gene, is associated with autoimmune diseases, such as type 1 diabetes. SIRPγ is the only SIRP expressed on T cells. The role of SIRPγ in human T-cells or the effect of the TT variant are poorly understood. In this short report, we demonstrate the rather unusual finding that this intronic SNP is associated with a reduction of SIRPγ expression on T cells, both in healthy subjects as well as patients with type 1 diabetes. Using this information, we propose that a simple flow cytometric detection of SIRPγ could be a potential diagnostic testing approach for the presence of SNP in the appropriate clinical context.

中文翻译：

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通过简单的表型分析检测到的自身免疫相关的内含子SNP（rs2281808）：独特的病例还是广阔的机会？

多个全基因组关联研究表明，信号调节蛋白γ（SIRPG）基因内存在的单核苷酸多态性（SNP）rs2281808 TT变体与自身免疫性疾病（例如1型糖尿病）相关。SIRPγ是在T细胞上表达的唯一SIRP。人们对SIRPγ在人类T细胞中的作用或TT变体的作用了解甚少。在这份简短的报告中，我们证明了一个非常不寻常的发现，即该内含子SNP与健康受试者以及1型糖尿病患者的T细胞SIRPγ表达的降低有关。利用这些信息，我们建议对SIRPγ进行简单的流式细胞术检测可能是在适当的临床背景下针对SNP存在的潜在诊断测试方法。