Integrated Immune Regulatory Mechanisms Underlying Autoimmune Thyroid Disease

Authors

  • Eylem Cagiltay
  • Duygu Kirkik
  • Betul Dogantekin
  • Mehmet Tolgahan Ormeci

DOI:

https://doi.org/10.22399/ijcesen.4821

Keywords:

AITD, IFN, AIRE, TBX1, TLR7

Abstract

Autoimmune thyroid disease (AITD) results from various elements which cause immune system tolerance failure and innate immune system activation and improper immune system signal transmission. Research has examined separate elements of these mechanisms, but scientists have not fully grasped how these components work together through genetic and functional processes. This study investigated how specific genes which control immune tolerance and innate immunity and cytokine receptor signaling and development affect autoimmune thyroid disease.A targeted gene-centered in silico approach was applied to analyze AIRE, IFNAR1, IFNAR2, IFNGR2, IL10RB, TLR7, and TBX1. Functional interaction networks were constructed using GeneMANIA and STRING databases. Functional enrichment analyses were performed using Gene Ontology, KEGG, and Reactome pathway databases. Tissue-specific gene expression patterns were assessed using bulk RNA sequencing data from the GTEx database. Network analysis revealed a modular organization, with cytokine receptor–related genes forming a densely connected signaling core, while AIRE and TBX1 occupied distinct subnetworks reflecting immune tolerance and developmental roles, respectively. Functional enrichment analysis highlighted pathways related to immune regulation, innate immune response, and cytokine-mediated signaling. Tissue expression analysis demonstrated widespread expression of receptor genes with variable tissue-specific distribution, supporting receptor-level modulation of immune responsiveness. This research evidence supports a complex system which explains autoimmune thyroid disease through the interaction of immune tolerance systems and innate immune perception and receptor-based immune responses which develop during early life stages. The proposed framework enables scientists to study autoimmune thyroid disease immune system imbalance while helping them create new laboratory tests and medical trial designs.

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Published

2025-04-29

How to Cite

Eylem Cagiltay, Duygu Kirkik, Betul Dogantekin, & Mehmet Tolgahan Ormeci. (2025). Integrated Immune Regulatory Mechanisms Underlying Autoimmune Thyroid Disease. International Journal of Computational and Experimental Science and Engineering, 11(4). https://doi.org/10.22399/ijcesen.4821

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Section

Research Article