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已发表论文
利用生物信息学和孟德尔随机化分析鉴定多囊卵巢综合征与子宫内膜癌之间的共享基因特征和通路
Authors Ye D , Yu Y, Xu C, Fu Z, Zhong F, Shen H
Received 21 July 2025
Accepted for publication 9 December 2025
Published 26 December 2025 Volume 2025:17 Pages 5669—5687
DOI https://doi.org/10.2147/IJWH.S555274
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 3
Editor who approved publication: Dr Matteo Frigerio
Dan Ye,1,* Yi Yu,2,* Chengjie Xu,3 Zhongpeng Fu,4 Fangfang Zhong,5 Haoran Shen1
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; 2Medical Center of Diagnosis and Treatment for Cervical Diseases, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China; 3Department of Intelligence Science, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China; 4Department of Ultrasonography, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China; 5Department of Pathology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Haoran Shen, Department 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, Tel +86-021-33189900, Email shenhaoran@fudan.edu.cn Fangfang Zhong, Department of Pathology, Obstetrics & Gynecology Hospital of Fudan University, No. 419 Fangxie Road, Shanghai, 200011, People’s Republic of China, Tel +86-021-33189900, Email ffzhong0802@163.com
Aim: Polycystic ovary syndrome (PCOS) is a common endocrine disorder with high incidence. It has been reported that patients with PCOS are at great risk of developing endometrial cancer (EC). Our study was aimed to analyze the shared gene signatures and biological mechanism between PCOS and EC.
Methods: The datasets of PCOS and EC were downloaded from Gene Expression Omnibus (GEO) database, weighted gene co-expression network analysis (WGCNA), protein–protein interaction (PPI) network, functional enrichment analysis, miRNA and transcription factor prediction were applied to select key genes and pathways. In addition, Mendelian randomization (MR) was performed to analyze the association of PCOS with EC.
Results: Through WGCNA and PPI network, 8 key genes namely, IL-10, CXCL8, IFNG, MMP9, PECAM1, CYBB, MYD88 and IRF4 were identified. Function enrichment analysis indicated that type I interferon signaling pathway was the most important common pathways for PCOS and EC. Furthermore, a causal effect was found between EC and PCOS (Inverse variance weighted, p < 0.05) after bidirectional MR analysis.
Conclusion: This study, for the first time, systematically investigated the potential association between PCOS and EC through an integrative approach combining bioinformatics analysis and MR analysis. Type I interferon signaling pathway played key regulatory effect in PCOS and EC. Eight genes, such as MMP9, PECAM1 and CYBB, may be key markers linking PCOS and EC.
Keywords: polycystic ovary syndrome, endometrial cancer, gene, pathway, Mendelian randomization
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; 2Medical Center of Diagnosis and Treatment for Cervical Diseases, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China; 3Department of Intelligence Science, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China; 4Department of Ultrasonography, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China; 5Department of Pathology, Obstetrics & Gynecology Hospital of Fudan University, Shanghai, 200011, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Haoran Shen, Department 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, Tel +86-021-33189900, Email shenhaoran@fudan.edu.cn Fangfang Zhong, Department of Pathology, Obstetrics & Gynecology Hospital of Fudan University, No. 419 Fangxie Road, Shanghai, 200011, People’s Republic of China, Tel +86-021-33189900, Email ffzhong0802@163.com
Aim: Polycystic ovary syndrome (PCOS) is a common endocrine disorder with high incidence. It has been reported that patients with PCOS are at great risk of developing endometrial cancer (EC). Our study was aimed to analyze the shared gene signatures and biological mechanism between PCOS and EC.
Methods: The datasets of PCOS and EC were downloaded from Gene Expression Omnibus (GEO) database, weighted gene co-expression network analysis (WGCNA), protein–protein interaction (PPI) network, functional enrichment analysis, miRNA and transcription factor prediction were applied to select key genes and pathways. In addition, Mendelian randomization (MR) was performed to analyze the association of PCOS with EC.
Results: Through WGCNA and PPI network, 8 key genes namely, IL-10, CXCL8, IFNG, MMP9, PECAM1, CYBB, MYD88 and IRF4 were identified. Function enrichment analysis indicated that type I interferon signaling pathway was the most important common pathways for PCOS and EC. Furthermore, a causal effect was found between EC and PCOS (Inverse variance weighted, p < 0.05) after bidirectional MR analysis.
Conclusion: This study, for the first time, systematically investigated the potential association between PCOS and EC through an integrative approach combining bioinformatics analysis and MR analysis. Type I interferon signaling pathway played key regulatory effect in PCOS and EC. Eight genes, such as MMP9, PECAM1 and CYBB, may be key markers linking PCOS and EC.
Keywords: polycystic ovary syndrome, endometrial cancer, gene, pathway, Mendelian randomization