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Updated: Jul 9, 2025
Author Spotlight: Advancing Reproductive Immunology with a Protocol for the Quantitative Evaluation of Endometrial Immune Cells
Published on: October 13, 2023
Unraveling immunotherapeutic targets for endometriosis: a transcriptomic and single-cell analysis
Cankun Zhou1, Minqing Feng1, Yonglian Chen1
1Department of Gynecology, Southern Medical University Affiliated Maternal & Child Health Hospital of Foshan, Foshan, Guangdong, China.
Background:
Endometriosis (EMs), a common gynecological disorder, adversely affects the quality of life of females. The pathogenesis of EMs has not been elucidated and the diagnostic methods for EMs have limitations. This study aimed to identify potential molecular biomarkers for the diagnosis and treatment of EMs.
Methods:
Differential gene expression (DEG) and functional enrichment analyses were performed using the R language. WGCNA, Random Forest, SVM-REF and LASSO methods were used to identify core immune genes. The CIBERSORT algorithm was then used to analyse the differences in immune cell infiltration and to explore the correlation between immune cells and core genes. In addition, the extent of immune cell infiltration and the expression of immune core genes were investigated using single-cell RNA (scRNA) sequencing data. Finally, we performed molecular docking of three core genes with dienogest and goserelin to screen for potential drug targets.
Results:
DEGs enriched in immune response, angiogenesis and estrogen processes. CXCL12, ROBO3 and SCG2 were identified as core immune genes. RT-PCR confirmed that the expression of CXCL12 and SCG2 was significantly upregulated in 12Z cells compared to hESCs cells. ROC curves showed high diagnostic value for these genes. Abnormal immune cell distribution, particularly increased macrophages, was observed in endometriosis. CXCL12, ROBO3 and SCG2 correlated with immune cell levels. Molecular docking suggested their potential as drug targets.
Conclusion:
This study investigated the correlation between EMs and the immune system and identified potential immune-related biomarkers. These findings provided valuable insights for developing clinically relevant diagnostic and therapeutic strategies for EMs.
Insights
This study identified CXCL12, ROBO3, and SCG2 as key immune biomarkers for endometriosis (EMs). These genes show diagnostic potential and may serve as therapeutic targets for EMs treatment.
Area of Science:
- Immunology
- Genomics
- Molecular Biology
Background:
- Endometriosis (EMs) is a prevalent gynecological disorder significantly impacting female quality of life.
- Current understanding of EMs pathogenesis is incomplete, and diagnostic methods possess limitations.
- There is a critical need for novel molecular biomarkers for accurate diagnosis and effective treatment of EMs.
Purpose of the Study:
- To identify potential molecular biomarkers for the diagnosis and treatment of endometriosis.
- To investigate the correlation between endometriosis and the immune system.
- To explore novel therapeutic targets for endometriosis.
Main Methods:
- Differential gene expression (DEG) and Weighted Gene Co-expression Network Analysis (WGCNA) were employed.
- Machine learning methods (Random Forest, SVM-REF, LASSO) identified core immune genes.
- CIBERSORT algorithm and single-cell RNA sequencing analyzed immune cell infiltration and gene expression.
Main Results:
- DEGs were enriched in immune response, angiogenesis, and estrogen pathways.
- CXCL12, ROBO3, and SCG2 were identified as core immune genes with high diagnostic value.
- Increased macrophages were observed in endometriosis, correlating with core gene expression; molecular docking suggested therapeutic potential.
Conclusions:
- This study highlights the intricate relationship between endometriosis and the immune system.
- CXCL12, ROBO3, and SCG2 represent promising immune-related biomarkers for endometriosis diagnosis.
- These findings offer valuable insights for developing targeted diagnostic and therapeutic strategies for endometriosis.
