Journal of Environmental Biology

Comprehensive gene expression analysis of Polycythemia: Unveiling molecular pathways and therapeutic targets through multi-database integration

V. Rajesh Kumar¹*, S.R. Naveen¹, G. Priyanka¹ and U. Adiga²     

¹Department of Paediatrics, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

²Department of Biochemistry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

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

*Corresponding Author Email: rajeshkumar_v@aimsrchittoor.edu.in                  *ORCiD: https://orcid.org/0009-0003-6619-1583

Abstract

Aim: Polycythemia is a complex haematological disorder characterised by excessive red blood cell production, yet its underlying genetic mechanisms remain inadequately understood. This study sought to comprehensively explore the genetic landscape of polycythemia through integration of multiple bioinformatic database resources.

Methodology: The top 30 genes associated with polycythemia were retrieved from DisGeNET and analysed using Gene Ontology, WikiPathways, ClinVar, ChEA, TargetScan, DrugMatrix, HMDB, and Jensen databases. Functional enrichment, metabolite association, and drug interaction analyses were performed, with statistical analysis and visualisation conducted in R (v4.4.2).

Results: Fourteen genes, including EGLN1, EPAS1, EPO, HIF1A, EPOR, VHL and JAK2, demonstrated significant enrichment in hypoxia-inducible factor signalling pathways (p < 0.001). Key molecular processes identified encompassed iron metabolism, erythropoietin signalling and oxygen sensing. Metabolite analysis implicated ascorbic acid, hydroxyproline, iron, and L-proline, whilst drug interaction profiling highlighted metabolic and anti-inflammatory modulators as potential therapeutic targets.

Interpretation: This integrative analysis underscores the central roles of hypoxia response and iron metabolism in polycythemia pathophysiology. The identified metabolites and druggable targets offer novel insights that may inform therapeutic intervention and support the development of personalised treatment strategies.

Key words: Erythropoietin signaling, Gene expression analysis, Hypoxia-inducible factor, Iron metabolism, Polycythemia

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