Photo Credit: Alona Siniehina
The following is a summary of “Identification of immune-related regulatory networks and diagnostic biomarkers in thyroid eye disease,” published in the February 2024 issue of Ophthalmology by Tong et al.
Thyroid eye disease (TED) is an autoimmune disorder affecting the orbit, with its pathogenesis intricately tied to immune dysregulation.
Researchers conducted a retrospective study to uncover the immunological pathogenesis of TED and identify diagnostic genes.
They retrieved gene expression microarray data for TED patients from the Gene Expression Omnibus, selected immune-related genes (IRGs) from the ImmPort database, and gathered TED-related transcription factors (TFs) from the Cirtome Cancer database. Subsequent analyses included differential analysis, Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. Regulatory networks involving TFs and IRGs were constructed using Cytoscape, while diagnostic biomarkers in TED were identified through LASSO. Immune cell infiltration analysis was conducted using CIBERSORT.
The results showed that 23 differentially expressed immune-related DEmRNAs were uncovered, primarily enriched in processes such as humoral immune response, positive regulation of inflammatory response, and pathways including IL-17 and TNF. A co-expression regulatory network comprising 4 TFs and 16 immune-related DEmRNAs was delineated. 7 diagnostic genes were pinpointed, demonstrating strong performance with an Area Under the Curve (AUC) of 0.993 for the training set and 0.836 for the validation set. Analysis revealed heightened infiltration levels of macrophages M2, mast cells, and CD8 T cells among 22 immune cell types in TED patients, while levels of macrophages M2 and resting mast cells were significantly lower compared to the normal group.
Investigators concluded that identified genes hold promise for diagnosing and treating TED by revealing critical regulatory networks.
Source: link.springer.com/article/10.1007/s10792-024-03017-9
