Journal of Environmental Biology

Genome wide association study of atopic dermatitis: Identification of genetic variants and pathway insights

E.V. Ravikanth¹*, S. Vasishta², Prasanthi Manium³, VKVA Jaswanthi¹ and T. Amulya²     

¹Department of Dermatology, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517127, India

²Department of Biochemistry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517127, India

³Department of OBG, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517127, India

Received: 29 November 2025                   Revised: 04 May 2026                   Accepted: 20 May 2026

*Corresponding Author Email: venkataravikanth_e@aimsrchittoor.edu.in                  *ORCiD: https://orcid.org/0000-0002-6602-1096

Abstract

Aim: Atopic dermatitis (eczema) is a chronic inflammatory skin condition with a strong genetic basis. Despite genome-wide association studies (GWAS) identifying associated regions, the underlying genetic profile and pathological mechanisms remain incompletely elucidated. This study aimed to characterise key genetic variants and their functional significance in atopic dermatitis.

Methodology: GWAS data for atopic dermatitis were analysed to identify key genetic variants. Functional relevance among candidate genes was assessed through pathway enrichment, protein–protein interaction, and clustering analyses. Regulatory mechanisms were explored via miRNA and transcription factor interaction mapping, whilst metabolomic data integration linked genetic variation to immune dysregulation and skin barrier dysfunction.

Results: Key loci implicating genes involved in immune response and epithelial barrier function were identified. Enrichment analyses highlighted mitochondrial biology, lipid metabolism, and cytokine signalling pathways. MicroRNAs and transcription factors were implicated as regulatory contributors to disease pathogenesis, and metabolomic validation confirmed detectable effects on immune-related functions and skin homeostasis.

Interpretation: These findings reinforce the genetic aetiology of atopic dermatitis, identifying novel loci and advancing understanding of its pathophysiology. The therapeutic targets emerging from this integrative analysis may serve as foundation for future personalised medicine approaches.

Key words: Atopic dermatitis, Genetic predisposition, Genome-wide association study, Inflammatory pathways, Skin barrier dysfunction

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