Characterizing the genetic and biological differences between endometriosis and adenomyosis
Presented at the 16th World Congress on Endometriosis
Key insights
- 171 adenomyosis and 182 endometriosis genetic risk signatures were identified using combinatorial analysis.
- 9 genes were found in both conditions in distinct SNP combinations, suggesting shared but mechanistically different pathways.
- Genes unique to adenomyosis were enriched for pathways involved in cell-cell adhesion, while those shared with endometriosis were linked to lipid metabolism and regulation of phagocytosis.
- Several of these findings have been reproduced in the ancestrally diverse All of Us cohort, increasing translational confidence.
- This analysis provides deeper insight than GWAS, stratifying patients into mechanistically defined subgroups and revealing potential therapeutic targets.
Implications for Healthcare and Diagnostics
This study supports the development of our non-invasive, saliva-based diagnostic tools - Mechanostics® - capable of distinguishing between endometriosis, adenomyosis, and related conditions such as IBS, uterine fibroids and fibromyalgia.
These stratification biomarkers can power more accurate differential triage and diagnosis to inform personalized treatment strategies based on a patient’s specific disease mechanism.
It also supports drug repurposing efforts by identifying patient subgroups with shared mechanistic profiles that can be matched with known therapeutic targets, accelerating clinical validation.
