Aim: To identify and functionally characterise key genetic susceptibility loci for psoriasis using GWAS data integrated with pathway, network, and regulatory analyses.
Methodology: GWAS datasets were systematically analysed to identify genes and genetic variants associated with psoriasis. Functional enrichment analyses were performed to delineate key biological pathways, regulatory elements, and functional annotations. Furthermore, transcription factor and microRNA interactions with psoriasis-related genes were evaluated to provide mechanistic insights.
Results: Multiple genetic loci were identified, reaffirming the contribution of immune dysregulation and impaired skin barrier function in psoriasis. Functional enrichment highlighted significant pathways including cytokine signalling, NF-κB activation, and keratinocyte proliferation. Several transcription factors and miRNAs regulating psoriasis-associated genes were also identified, offering additional layers of gene expression control.
Interpretation: Integration of GWAS findings with pathway and regulatory network analyses enhances the understanding of psoriasis genetics. Novel susceptibility genes, transcriptional regulators, and potential biomarkers have been identified, which may serve as therapeutic targets. Future research should focus on experimental validation and clinical translation to advance precision medicine approaches in psoriasis management.
Key words: Genetic susceptibility, GWAS Psoriasis, Immune-related loci, Inflammatory skin disease, Psoriasis genetics
B. S. Sindhu, G.P. Chandrasekhar Naidu, Kukkapalli Prathap Kumar et al.· Journal of environmental bio...· 0 citations
Aim: Metabolic syndrome (MetS) is a clustering of risk factors that increases susceptibility to type 2 diabetes and cardiovascular disease. This study aimed to perform a comprehensive bioinformatic analysis of genomic data to elucidate molecular pathways underlying MetS.
Methodology: GWAS data from previous MetS studies were analyzed using TargetScan, miRTarBase, Reactome Pathways, KEGG, protein–protein interaction (PPI) networks, and Gene Ontology (GO) mapping. Integration of these datasets identified key miRNAs, metabolic pathways, biological processes, and molecular activities associated with MetS.
Results: hsa-miR-126 was markedly enriched and strongly correlated with MetS. Pathway analysis highlighted cholesterol metabolism (p <0.05) and plasma lipoprotein remodeling (p <0.05) as significant contributors. GO analysis revealed triglyceride homeostasis (p <0.05) and very-low-density lipoprotein particle remodeling (p <0.05) as a key biological processes. Metabolomic analysis established strong links between triacylglycerol and glycerol metabolism. Lipid transport and metabolism emerged as central to MetS pathogenesis, with notable enrichments for high-density lipoprotein particles (p <0.05) and phosphatidylcholine-sterol O-acyltransferase activator activity (p <0.05).
Interpretation: This comprehensive analysis indicates that dysregulation of lipid metabolism is a major pathway in MetS, with specific miRNAs functioning as critical regulatory molecules. These insights suggest potential therapeutic strategies targeting miRNA-mediated regulation of lipid metabolism.
Key words: Cholesterol homeostasis, Lipid metabolism, Lipoprotein remodeling, Metabolic syndrome, miRNA regulation
C. Deepthi, E. V. Ravikanth, P. Reddemma et al.· Journal of environmental bio...· 0 citations