Endometriosis affects over 200m women worldwide with 10% of all women and up to 35% of infertile women affected. It is, however, poorly detected and often misdiagnosed. Women wait an average of 7.5 years before receiving a clear endometriosis diagnosis, and up to 75% of affected patients may be missed.
Our analysis identified disease-associated genetic variants from genes that are strongly associated with the risk of developing endometriosis, and which have a clear mechanism of action connection to the disease symptoms. Four of these have already been directly linked to endometriosis in scientific literature, providing validation for our results. One of the variants was present in every endometriosis patient, indicating a potentially strong role in disease.