|
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
|