Endometriosis could be genetic: First Indian genome study sheds light

India's first genome-wide study of endometriosis has identified 21 genetic regions linked to the disease in Indian women. The study, published in Scientific Reports, found that genetic susceptibility may play a role in the disease. Researchers say the findings provide an important starting point for larger studies, particularly among South Asian populations that have been underrepresented in genetic research on endometriosis. Women with endometriosis often experience severe period pain, chronic pelvic pain or infertility, often after years of suffering and sometimes with a family history of similar symptoms. The study's principal investigator, Dr. Rahul Gajbhiye, said that he was struck by how many women had lived for years with severe period pain before receiving a diagnosis. Dr. Gajbhiye began examining the genetic basis of endometriosis more systematically during his postdoctoral fellowship at the University of Queensland, Australia, and later established the Endometriosis Clinical and Genetic Research in India (ECGRI) initiative. The study involved 18 centres across India and recruited 18,000 women with surgically confirmed endometriosis and 18,000 control participants. The findings are not ready for clinical use or individual risk prediction, but they provide an important foundation for future South Asian studies on endometriosis biology and genetic risk. Endometriosis affects about 10% of women of reproductive age, but diagnosis is often delayed for years. The problem is particularly important in India, where awareness, early recognition, access to specialised care and population-specific research evidence remain limited.