To develop a platform for discovery and replication of specific combinations of SNP genotypes associated with endometriosis is WP4’s aim.

A selected few key FEMaLe outputs and highlights in WP4 from July 2022 to December 2023:

– We will identify combinatorial risk scores (CRS), i.e., combinations of SNP genotypes that together exhibit a non-linear epistatic effect on phenotype. We count directly how many cases-control members have these combinatorial features and how strongly they are associated with their phenotype. This not only gives a more accurate score, but also a much more personalized one.

– A genome-wide association study meta-analysis, including 60,674 cases and 701,926 controls of European and East Asian descent, identified 42 genome-wide significant loci comprising 49 distinct association signals. We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis. Multitrait genetic analyses identified substantial sharing of variants associated with endometriosis and MCP/migraine.

– Results from WP4 were presented at the World Congress on Endometriosis in Edinburgh in May, 2023:

* Genetic Subtypes in Endometriosis Identified from Combinatorial Analytics (Oral).
* The Genetic Basis of Endometriosis and Comorbidity with Other Pain and Inflammatory Conditions (Oral).
* Defining the Proteomic Profiles for Endometriosis Sub-types (Poster).