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Journal of Environmental Biology

pISSN: 0254-8704 ; eISSN: 2394-0379 ; CODEN: JEBIDP

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    Abstract - Issue Jul 2026, 47 (4)                                     Back


nstantaneous and historical temperature effects on a-pinene

Genetic determinants of iron status biomarkers: A comprehensive analysis of GWAS-derived loci and their functional implications

 

Kukkapalli Prathap Kumar1*, Lasya Raj Narasareddy1, B.S. Sindhu2, S. Vasishta3 and E.V. Ravikanth2     

1Department of otorhinolaryngology, Apollo Institute of Medical Sciences & Research Chittoor, Murukambattu - 517 127, India

2Department of DVL, Apollo Institute of Medical Sciences & Research Chittoor, Murukambattu - 517127, India

3Department of Biochemistry, Apollo Institute of Medical Sciences & Research Chittoor, Murukambattu - 517127, India

 

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

*Corresponding Author Email: prathapkumar_k@aimsrchittoor.edu.in                  *ORCiD: https://orcid.org/0009-0009-6184-9132

 

 

 

Abstract

 

Aim: Iron is a critical micronutrient supporting oxygen transport, nucleic acid synthesis, electron transfer, and mitochondrial respiration. Despite these well-established roles, the genetic factors regulating iron balance across individuals remain incompletely characterised. This study examined the genetic loci influencing iron status biomarkers through systematic analysis of GWAS-derived data.

Methodology: Genetic variants associated with iron-related biomarkers were retrieved from publicly available GWAS resources and subjected to integrative bioinformatic evaluation. Identified loci were mapped to candidate genes and analysed through gene ontology enrichment, protein–protein interaction network construction, and metabolite association analysis. Statistical enrichment was assessed via Fisher's exact test with Benjamini–Hochberg correction for multiple testing.

Results: Recurrently implicated genes across analytical layers included TMPRSS6, HFE, TF, and SOD2. Functional enrichment demonstrated significant associations with multicellular organismal iron ion homeostasis (p = 0.0001), iron ion regulation (p = 0.0022), and cellular response to iron ions (p = 0.0069). Network analysis revealed coordinated functional interactions among these genes, implicating shared involvement in iron balance and cellular iron handling.

Interpretation: These findings indicate that iron homeostasis is governed by an interconnected genetic framework encompassing iron sensing, transport and oxidative stress pathways, with potential implications for diagnostic refinement and personalised management of iron-related disorders.

Key words: Genetic determinants, GWAS, Hemochromatosis, Iron metabolism, Iron transport

 

 

 

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