Genetic and Molecular Characterization of Atopic Eczema: A Comprehensive Bioinformatics Analysis of Gene Interactions and Pathways
Year: 2025
Type: article
Abstract: Background: Atopic eczema (AE) is a chronic inflammatory skin disorder with complex etiopathogenesis involving genetic predisposition, environmental triggers, and immunological dysregulation. Recent bioinformatics advances have enabled the identification of key genetic factors contributing to AE pathology. Methods: In this in silico study, we analyzed the top 30 AE-related genes identified from DisGeNET. Comprehensive gene enrichment analyses were conducted using databases for Gene Ontology biological processes, cellular components, and molecular functions. In addition, pathway mapping was performed using WikiPathways to delineate critical signaling interactions. Statistical significance was assessed through hypergeometric tests and false discovery rate corrections, while overrepresentation analysis helped elucidate pathway involvement. Results: The analysis revealed a significant enrichment of genes involved in inflammatory and immune responses. Notably, key pathways such as proinflammatory mediator activity, cytokine receptor interactions, and inflammatory bowel disease signaling were highly overrepresented ( P < 0.00000001). Genes including interleukin (IL) 10, transforming growth factor-β1 (TGFB1), tumor necrosis factor (TNF), and IL4 emerged as central nodes within multiple interacting networks, underscoring their potential roles in mediating disease processes. Conclusion: This structured bioinformatics study underscores the molecular complexity of AE, revealing that dysregulated inflammatory and immune pathways are critical to its pathogenesis. The identified genetic signatures, particularly the involvement of IL10, TGFB1, TNF, and IL4, not only enhance our understanding of AE’s underlying mechanisms but also provide promising targets for future therapeutic interventions.
Authors: Basannagari Sreenivasa Sindhu, Usha S Adiga, Kukkapalli Prathap Kumar, Nagishetty Sindhuja, Eddula Venkata Ravikanth, Karanam Harikumar Sneha
Institution: Apollo Institute of Medical Sciences & Research
Language: English
Subfield: Dermatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4411437420