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S. Vasishta

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Jul 2026

Genetic and molecular insights into amyotrophic lateral sclerosis: Exploring key pathways and disease mechanisms

Aim: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterised by progressive motor neuron degeneration. Despite identification of multiple susceptibility loci, the genetic and molecular basis of ALS pathogenesis remains incompletely understood. The present study aimed to integrate functional and metabolic analyses with GWAS-derived variants to investigate key genes, pathways, and cellular mechanisms underlying ALS. Methodology: Genetic variants associated with ALS were retrieved from published GWAS datasets and analysed through integrative bioinformatic approaches, including Gene Ontology (GO) enrichment and KEGG pathway mapping. Cell Marker enrichment assessed immune cell involvement, whilst metabolomic profiling examined lipid metabolism alterations. Unsupervised machine learning, encompassing clustering and principal component analysis (PCA), identified patterns across susceptibility loci on chromosomes 9, 12 and 19. Results: Core susceptibility genes identified included C9orf72, UNC13A and ITPR2. Enrichment analyses revealed disruptions in synaptic vesicle docking, neurotransmitter release, calcium homeostasis, oxidative stress, and neuroinflammation. Metabolomic profiling implicated disturbed lipid metabolism, whilst chromosomal clustering highlighted a genetic basis for disease heterogeneity. Interpretation: These findings underscore the multifactorial nature of ALS across genetic, molecular and metabolic dimensions, identifying potential molecular targets to guide future therapeutic development. Key words: ALS, Calcium signalling, GWAS, Neurodegeneration, Synaptic dysfunction

U. Adiga, P. Supriya, S. Adiga et al. · 0 citations
Jul 2026

Comprehensive analysis of genetic and epigenetic factors in oropharyngeal carcinoma: Integrating GWAS data with functional pathway analysis

Aim: Oropharyngeal carcinoma (OPC) is a complex malignancy shaped by inherited susceptibility, environmental exposures, and regulatory mechanisms. Despite genome-wide association studies (GWAS) identifying multiple associated loci, their downstream biological relevance and interactions with metabolic and epigenetic factors remain inadequately characterised. This study systematically integrated GWAS-identified genes with functional bioinformatic analyses to elucidate molecular processes contributing to OPC. Methodology: GWAS-implicated genes were subjected to pathway and process enrichment, transcription factor binding prediction, microRNA target enrichment, and cell-type–specific marker identification. Statistical evaluation employed p-values, adjusted p-values, odds ratios, and combined enrichment scores. Associated metabolites and histone modification signatures were examined to contextualise findings within broader regulatory frameworks. Results: Enrichment analyses revealed strong overrepresentation of alcohol-related metabolic pathways, particularly ethanol oxidation (OR = 3331.00), and retinol/retinoic acid metabolism (OR = 1498.13). Significantly associated metabolites included ethanol, acetaldehyde, retinol, and retinal. MicroRNA enrichment implicated miR-3924 and miR-511-3p (OR > 50), whilst epigenetic profiling highlighted H3K27me3 and selected acetylation marks. Cell marker analysis indicated enrichment for LGR5-positive stem cells and basal epithelial cells. Interpretation: These findings outline a multifactorial landscape in oropharyngeal carcinoma, wherein genetic susceptibility modulated through epigenetic and cell-type–specific regulatory contexts, offering candidate features for future experimental validation. Key words: Alcohol metabolism, Epigenetic regulation, Genome-wide association study, Oropharyngeal carcinoma, Retinol metabolism

G. Padmavathi, N. Uday Kumar, D. Dhanusha et al. · 0 citations
Jul 2026

Genetic and molecular insights into bipolar disorder: A genome-wide association study and bioinformatics analysis

This integrative analysis enhances knowledge on the genetic and molecular architecture of bipolar disorder, reinforcing its polygenic nature and implicating mitochondrial dysfunction, immune dysregulation, and neurotransmitter imbalances.

J. Timmapuram, G. Baby Shalini, T. Poojasree et al. · 0 citations