Systemic lupus erythematosus (SLE) is a complex heterogenous autoimmune disease that can be challenging to diagnose. We previously identified the IFN-induced protein 44-like (IFI44L) methylation marker for SLE diagnosis, which can be detected by pyrosequencing. Although the previous technique has high sensitivity and specificity, it requires special equipment and high cost for detection. Here, we established a high-resolution melting-quantitative polymerase chain reaction (HRM-qPCR) assay to detect the methylation of IFI44L promoter for the diagnosis of SLE. The result was determined according to the standard melting curve of the methylation level of the IFI44L promoter region. The sensitivity was 88.571% and the specificity was 97.087%. The HRM-qPCR and pyrosequencing results presented good consistency when both methods were used to detect the methylation of the IFI44L promoter for SLE diagnosis. Furthermore, the HRM-qPCR method can be used to distinguish SLE from other autoimmune diseases, infectious diseases and virus-related cancers.

系统性红斑狼疮（SLE）是一种复杂的异源性自身免疫性疾病，可能难以诊断。我们先前确定了SLE诊断的IFN诱导蛋白44样（IFI44L）甲基化标记，可通过焦磷酸测序检测。尽管先前的技术具有高灵敏度和特异性，但是它需要专用设备和高昂的检测成本。在这里，我们建立了高分辨率的熔解定量聚合酶链反应（HRM-qPCR）分析法，以检测IFI44L启动子的甲基化，以诊断SLE。根据IFI44L甲基化水平的标准熔解曲线确定结果启动子区域。敏感性为88.571％，特异性为97.087％。当两种方法都用于检测IFI44L启动子的甲基化以进行SLE诊断时，HRM-qPCR和焦磷酸测序结果具有良好的一致性。此外，HRM-qPCR方法可用于将SLE与其他自身免疫性疾病，传染病和病毒相关癌症区分开来。