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: This study aimed to explore the genetic basis of childhood obesity through systematic identification and examination of genes, pathways, and regulatory elements contributing to disease development using integrated bioinformatic approaches.
Methodology: Thirty genes strongly associated with childhood obesity were subjected to detailed computational analysis using DisGeNET, Gene Ontology (GO), and WikiPathways. Gene–gene interaction patterns, biological processes, molecular functions, and cellular components were examined. Regulatory layers involving transcription factor and microRNA interactions were additionally analysed to characterise genetic and post-transcriptional control mechanisms.
Results: Significantly enriched pathways included adipogenesis, orexin receptor signalling, hunger and satiety regulation, and broader metabolic control mechanisms. Key genes including LEP, IL6, POMC and ADIPOQ recurred across multiple analyses, indicating central roles within obesity-associated molecular networks. Cross-database integration revealed complex genetic interactions and molecular cross-talk influencing obesity-related phenotypes.
Interpretation: This study delineates a comprehensive genetic and molecular landscape underlying childhood obesity, reflecting its multifactorial pathogenesis. The identification of key regulatory genes, transcription factors, and microRNA interactions provides valuable insight into potential molecular targets, with implications for improving future prevention and management strategies for childhood obesity.
Key words: Bioinformatics, Childhood obesity, Gene pathways, Molecular networks, Therapeutic targets
T. Govardhan, J. Brahmaiah, P. V. 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
Novel insights are revealed into CHD genetics, confirming known loci such as 9p21.3 (CDKN2B-AS1), COL4A2 and PHACTR1, while uncovering their broader functional roles in vascular remodelling, inflammation, and lipid metabolism.
T. Amulya, S. Vadlamudi, K. Farzia et al.· Journal of environmental bio...· 0 citations