Comprehensive Functional Enrichment Analysis of Ovarian Cancer-Associated Genes Derived from GWAS Data

Genome-wide association studies (GWAS) have identified multiple risk loci associated with ovarian cancer. This study integrates GWAS data with bioinformatics analyses to uncover key genetic loci, biological pathways and molecular interactions implicated in ovarian cancer. GWAS data from publicly available repositories were analyzed to identify significant risk loci. Gene Ontology (GO) enrichment, Reactome pathway mapping and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analyses were performed. Protein-protein interaction (PPI) network construction and microRNA (miRNA) target analysis provided insights into post-transcriptional regulation. Additionally, metabolomic and transcription factor analyses were conducted to explore systemic alterations associated with ovarian cancer. Significant associations were identified with genes involved in DNA damage repair (ANKLE1, BABAM1), immune modulation (USHBP1) and chromosomal stability. PPI analysis revealed key regulatory hub proteins, including HGS and SUMO1. miRNA enrichment analysis highlighted regulatory interactions, particularly with hsa-miR-614 and hsa-miR-652, suggesting potential epigenetic influences on gene expression. Reactome pathway analysis identified critical involvement in DNA double-strand break repair and non-homologous end-joining (NHEJ) pathways. This study provides novel insights into the genetic and molecular landscape of ovarian cancer, reinforcing the significance of DNA repair pathways, immune system modulation and epigenetic regulation. These findings may aid in identifying therapeutic targets and developing precision medicine approaches for ovarian cancer management.