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Identification of the Shared Gene Signatures and Pathways Between Polycystic Ovary Syndrome and Endometrial Cancer
Dan Ye1, Yi Yu2, Chengjie Xu3
1Department of Gynecology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai Key Lab of Reproduction and Development, Shanghai Key Lab of Female Reproductive Endocrine Related Diseases, Shanghai, 200433, People's Republic of China.
Polycystic ovary syndrome (PCOS) and endometrial cancer (EC) share common gene markers and biological pathways, notably the type I interferon signaling pathway. This study identified eight key genes, including MMP9 and PECAM1, suggesting a potential causal link between PCOS and EC.
Area of Science:
- Endocrinology
- Oncology
- Genetics
- Bioinformatics
Background:
- Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder.
- PCOS is associated with an increased risk of developing endometrial cancer (EC).
- Understanding shared mechanisms between PCOS and EC is crucial for risk assessment and potential therapeutic targets.
Purpose of the Study:
- To identify shared gene signatures between PCOS and EC.
- To elucidate the underlying biological mechanisms connecting PCOS and EC.
- To investigate the potential causal relationship between PCOS and EC.
Main Methods:
- Utilized Gene Expression Omnibus (GEO) datasets for PCOS and EC.
- Applied Weighted Gene Co-expression Network Analysis (WGCNA) and Protein-Protein Interaction (PPI) network analysis.
- Conducted functional enrichment analysis and Mendelian randomization (MR) analysis.
Main Results:
- Identified eight key shared genes: IL-10, CXCL8, IFNG, MMP9, PECAM1, CYBB, MYD88, and IRF4.
- The type I interferon signaling pathway emerged as a critical common pathway.
- Bidirectional MR analysis revealed a causal effect between EC and PCOS.
Conclusions:
- This study provides a comprehensive analysis of the association between PCOS and EC using integrated bioinformatics and MR approaches.
- The type I interferon signaling pathway plays a significant regulatory role in both conditions.
- Identified genes like MMP9, PECAM1, and CYBB may serve as crucial biomarkers linking PCOS and EC.

