Zeitschrift für Genetik und Genome

Integrative Genomic Analysis Reveals Metabolic and Immune-Related Pathways Enriched in 14 Prioritized Endometriosis Risk-Associated Genes

Abstract

Kosuke Suzuki

The discovery of MNK1 and TOP3A as novel risk-related genes calls for future research to unravel their specific mechanisms of action and their potential as diagnostic or therapeutic markers. Through integrative genomic analyses, we have identified and prioritized 14 functionally connected genes as risk-associated factors in endometriosis. These genes are significantly enriched in metabolic and immune-related pathways, highlighting their involvement in the disease's pathogenesis. The validation of aberrant gene expression levels and the discovery of novel genes, MNK1 and TOP3A, further reinforce their potential as key players in endometriosis. These findings provide valuable insights into the molecular mechanisms underlying endometriosis and pave the way for targeted therapeutic strategies in the future.