Transcriptomic meta-analysis of sarcoidosis peripheral blood using STARGEO identifies immune signatures and potential biomarkers

Abstract

Over 90 % of sarcoidosis patients have pulmonary and mediastinal involvement, and late-stage disease may necessitate heart or lung transplantation. This study investigated the molecular mechanisms underlying sarcoidosis, a complex inflammatory disease, by analyzing differential gene expression patterns in peripheral blood samples. The Search Tag Analyze Resource for NCBI's Gene Expression Omnibus (STARGEO) platform was utilized to identify 218 sarcoidosis and 271 non-sarcoidosis peripheral blood samples. iPathwayGuide identified 639 genes with significant differential expression between sarcoidosis and control samples. The most upregulated genes were FCGR1CP, FCGR1B, PANDAR, DEFA1B, ANKRD22, and CARD17. Upstream regulators showing significant activation included IRF9, STAT2, IFNβ1, IFNG, and IRF7, which are largely involved in inflammatory responses. The top differentially expressed pathways were NOD-like receptor signaling, HSV-1 infection, Influenza A, COVID-19, and the intestinal immune network for IgA production. Differentially expressed genes and pathways play a large role in the immune system's response and regulation. These findings support the known involvement of specific immune responses in the pathogenesis of sarcoidosis. Notably, pathways upregulated in the immune response against several common viruses are also activated in sarcoidosis. The identified differentially expressed genes may serve as potential therapeutic targets, warranting further investigation.