Obesity is a complex disease caused by chronic energy imbalance and is associated with numerous comorbidities. Its development is strongly influenced by genetic and epigenetic factors involved in adipose tissue accumulation. The aim of this master’s thesis was to update a collection of genes associated with fat deposition in humans and, through a systems biology approach, to identify more robust candidate loci and biological pathways involved in the regulation of this process. In the first phase, the gene collection was updated using data from the literature published after 2017, and gene identifiers were harmonised according to the current HGNC nomenclature. Enrichment analysis of the candidate genes identified several biological pathways, including insulin signalling, cellular response to insulin stimulus, insulin resistance, and the PI3K–AKT–mTOR pathway, in agreement with previously published studies. Analysis of the genomic distribution of obesity-associated genes revealed regions of increased gene density. Although spatial clustering alone does not permit direct conclusions regarding the presence of functional modules, it may indicate a genomic organisation potentially relevant to the regulation of fat accumulation. These regions therefore provide a basis for further studies incorporating expression or functional data to enable a more comprehensive interpretation of their biological significance. The findings complement existing resources and contribute to a deeper understanding of the genetic basis of fat deposition in humans. The resulting dataset represents an important intermediate step towards the development of an open research resource that will enable continuous updating and integration into future bioinformatic analyses.
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