Endometriosis, a chronic inflammatory disease that affects approximately one in 10 women of reproductive age - around 190 million worldwide - remains poorly understood from a biological perspective, which has historically hindered both its accurate diagnosis and the development of effective treatments. Now, an international study published in the journal Nature Genetics provides new data to better understand the genetic basis and mechanisms involved in this condition.
The study, which analyses genetic information from nearly 1.4 million women, including more than 100,000 cases of endometriosis, constitutes the largest study conducted to date on this disease. It was led by experts from the University of Barcelona, the Sant Pau Research Institute (IR Sant Pau) and Yale University (United States), among other centers in Europe and the United States. The results have identified 80 regions of the genome associated with the risk of developing endometriosis, 37 of which had not been previously described, representing a significant advance in understanding its genetic architecture.
This international study also involves the participation of experts Bru Cormand, Marina Mitjans, and Selena Aranda, from the Department of Genetics, Microbiology and Statistics of the UB's Faculty of Biology and the Institute of Biomedicine (IBUB), the Sant Joan de Déu Research Institute (IRSJD), and the CIBER Area for Mental Health (CIBERSAM) the Area for Rare Diseases (CIBERER).
"When we study a disease, we need to understand its biological basis. If we do not know what happens at the molecular level, it is very difficult to develop effective treatments or improve diagnosis," says Dora Koller, lead author of the study and member of the Perinatal and Women's Health research group at IR Sant Pau and the UB's Department of Genetics, Microbiology and Statistics. She adds: "Basic research in endometriosis has arrived later than in other areas, which has limited understanding of the disease for years."
As Professor Bru Cormand details, "this study substantially expands the genetic map of endometriosis and allows us to identify new regions of the genome involved in the risk of developing the disease. These results are important because they help us to better understand the biological mechanisms underlying a highly complex and still little-known pathology."
"This study leverages a multidisciplinary collaboration to improve endometriosis care. We are dedicated to translating our findings into actionable solutions for women worldwide," says Renato Polimanti, senior author and Associate Professor of Psychiatry at the Yale School of Medicine.
