Genomic evidence: The recognition of endometriosis as an inflammatory systemic disease

Recognizing endometriosis as an inflammatory disease has disease-specific theraupetic potentials

Key Points

Highlights:

• New technology including "improved target prioritization", provides genomic insights into endometriosis and expands the existing theories on the origin of the disease.

Importance:

• New technology and new genomic insights into endometriosis also reveal disease-specific therapeutic potentials.

What’s done here:

• Genomics-led target prioritization (called ‘END’) yielded better findings than the customary approaches to provide genomic evidence for endometriosis as an inflammatory systemic disorder.

Key results:

• Target candidates that are specific to and tractable for the disease were revealed leading to genomic insights and therapeutic options that may change perspectives on endometriosis supporting further research.

Lay Summary

Dr. Bao and associates from Shangai-China published a new article on the genomic features of endometriosis that could yield information on its inflammatory basis and possible therapeutic potential in a recent issue of “Frontiers ın Immunology”.

Endometriosis is a systemic process with multi-organ consequences leading to high comorbidity. Genomics-led target prioritization called ‘END’ yielded better findings than the customary approaches to provide genomic evidence for endometriosis as an inflammatory systemic disorder.

Multi-step prioritization process was utilized as

(i) the preparation of genomic predictors;

(ii) the evaluation of predictor importance to identify informative predictors;

(iii) the assessment of how to combine informative predictors; and (iv) performance evaluation to benchmark.

The construction of a cross-disease prioritization map identifİed shared and distinct targets between endometriosis and immune-mediated diseases. Shared target genes identified opportunities for repurposing existing immunomodulators, particularly disease-modifying anti-rheumatic drugs such as TNF, IL6, and IL6R blockades, and JAK inhibitors. Genes highly prioritized only in endometriosis, revealed disease-specific therapeutic options for targeting neutrophil degranulation. 

Improved target prioritization provides genomic insights into endometriosis, reveals disease-specific therapeutic potentials, and expands the existing theories on the origin of the disease.

Research Source: https://pubmed.ncbi.nlm.nih.gov/35401535/