Is the pathogenesis of endometriosis hidden in immune-related gene profiles ?

Immune-related genes may yield important diagnostic clues in endometriosis cases!

Key Points

Highlights:

• The pathogenesis of endometriosis is related to several factors including local inflammatory response, proliferation, invasion, and angiogenesis.
• Immune factors are important in the viability of ectopic endometria via depressed immunosurveillance, and deficient phagocytosis.

Importance:  

• Exploring the role of immune-related genes and their molecular mechanisms to clarify the pathogenesis of endometriosis will be helpful for developing potential diagnostic markers in the dilemma.

What's done here:

• This study examined the correlations between the onset of endometriosis and immune-related genes, which could be potential molecular biomarkers using 12 endometrioma samples.
• Gene Expression Omnibus, Immunology Database, and Analysis Portal, and two Transcription Factor databases were used to obtain records related to the recognition of differentially expressed genes and immune-related genes and transcription factors.

Key Results:

• Immune-related genes were used to construct a diagnostic model in endometriosis patients by bioinformatics. 
• Receiver operating characteristics confirmed that the diagnostic value of hub genes (C3 and VCAM1) was clinically applicable in endometriosis diagnosis.

Limitations:

• The small sample population and a rather incomplete molecular mechanism study of IRGs in endometriosis are the main limitations.

Lay Summary

Yanan He and colleagues from the Department of Gynecology, Harbin Medical University, China  have published their manuscript on potential immune markers in endometriosis in a recent issue of  “Journal of Immunology Research”

Pathophysiologic mechanisms involving endometriosis are complicated and have various parameters like local inflammation, proliferation, invasion, and angiogenesis of endometrial cells. All these have not been well understood yet. The majority agrees that immune factors have a major role in the viability of ectopic endometria with depressed immunosurveillance and deficient phagocytosis.

It is therefore quite important to study the role of immune-related genes and their molecular mechanisms in endometriosis which could be helpful in understanding pathogenesis. This may also help in developing potential diagnostic markers.

The authors have searched correlations between the onset of endometriosis and immune-related genes via Gene Expression Omnibus, Immunology Database, Analysis Portal, and Transcription Factor databases for data related to the recognition of differentially expressed genes and immune-related genes besides two online transcription factor datasets were analyzed.

Endometriotic tissues were collected from 12 endometriomas and 12 controls to verify the hub genes. Protein-protein interaction analyses were performed to indicate the potential mechanisms of the above genes at the molecular level. Finally, the diagnostic value of the hub immune-regulatory genes was statistically analyzed.

High C3, VCAM1, ITGB2, and C3AR1 all had statistical significance among differentially expressed immune-related genes besides showing higher sensitivity and specificity by receiver operating characteristic analysis for the diagnosis of endometriosis.

Finally, C3 and VCAM1 were found to be highly expressed in endometriosis tissues with high specificity and sensitivity for diagnosing endometriosis.

Research Source: https://pubmed.ncbi.nlm.nih.gov/36660246/