Yang Yiying, Zhang Ying, Liu Ke, Liu Meidong, Zhang Huali, Guo Muyao
Department of Rheumatology, Xiangya Hospital, Department of Pathophysiology, Xiangya School of Basic Medicine Science, Central South University, 410000, Changsha, Hunan, China.
Sepsis Translational Medicine Key Lab of Hunan Province, Changsha, Hunan, China.
Clin Rheumatol. 2025 May;44(5):1949-1960. doi: 10.1007/s10067-025-07409-9. Epub 2025 Mar 27.
The etiology of primary Sjogren's syndrome (pSS) is complex and not completely clear. This study was to identify key genes in pSS based on Gene Expression Omnibus (GEO).
We downloaded the GSE40568, GSE80805, GSE127952, and GSE164885 mRNA expression profiles from GEO. Differentially expressed genes (DEGs) analyses were carried out by using the online analysis tool GEO2R and R. Gene Ontology (GO) annotation and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed to elucidate the biological processes, molecular function, cellular component, and KEGG signaling pathways for the DEGs in salivary glands (SGs) and peripheral blood mononuclear cells (PBMCs). Genes co-expressed were found in PBMCs and SGs of pSS patients. RT-qPCR was performed for validation. Finally, clinical correlation analysis and receiver operator characteristic (ROC) curve analysis were performed.
A total of thirty-nine up-regulated and one down-regulated genes were identified in pSS SGs. GO and KEGG pathway revealed that these DEGs were related to response to virus, and type I interferon signaling pathway. It was verified that fourteen genes were up-regulated in the SGs of pSS by RT-qPCR. Twenty up-regulated genes were identified in pSS patients PBMCs. Two genes were up-regulated in SGs and PBMCs of pSS patients, including IFI27 and IFI44L. The mRNA level of IFI27 was positively correlated with the disease activity of pSS patients. Furthermore, ROC analyses proved IFI27 may have diagnostic value for pSS.
IFI27 might serve as a potential biomarker for the early diagnosis and therapy of pSS. Key Points • IFI27 expression was significantly increased in PBMCs and SGs of pSS patients. • IFI27 was positively correlated with disease activity in pSS patients. • IFI27 might have a good diagnostic value for pSS.
原发性干燥综合征（pSS）的病因复杂且尚未完全明确。本研究旨在基于基因表达综合数据库（GEO）鉴定pSS中的关键基因。
我们从GEO下载了GSE40568、GSE80805、GSE127952和GSE164885的mRNA表达谱。使用在线分析工具GEO2R和R进行差异表达基因（DEG）分析。进行基因本体论（GO）注释和京都基因与基因组百科全书（KEGG）通路富集分析，以阐明唾液腺（SG）和外周血单个核细胞（PBMC）中DEG的生物学过程、分子功能、细胞成分和KEGG信号通路。在pSS患者的PBMC和SG中发现共表达的基因。进行逆转录定量聚合酶链反应（RT-qPCR）验证。最后，进行临床相关性分析和受试者操作特征（ROC）曲线分析。
在pSS的SG中总共鉴定出39个上调基因和1个下调基因。GO和KEGG通路显示这些DEG与病毒应答和I型干扰素信号通路有关。通过RT-qPCR验证了pSS的SG中有14个基因上调。在pSS患者的PBMC中鉴定出20个上调基因。在pSS患者的SG和PBMC中有2个基因上调，包括IFI27和IFI44L。IFI27的mRNA水平与pSS患者的疾病活动度呈正相关。此外，ROC分析证明IFI27可能对pSS具有诊断价值。
IFI27可能作为pSS早期诊断和治疗的潜在生物标志物。要点 • pSS患者的PBMC和SG中IFI27表达显著增加。 • pSS患者中IFI27与疾病活动度呈正相关。 • IFI27可能对pSS具有良好的诊断价值。
