For years, women with endometriosis (where tissue lining the uterus overgrows outside it) have been telling doctors the same story: severe period pain, chronic pelvic pain or infertility, often after years of suffering and sometimes with a mother or sister reporting similar symptoms. Now, India’s first genome-wide study of the disease has found evidence that genetic susceptibility may play a role in Indian women, while also identifying genetic signals that could be particularly relevant to the Indian population.The study, published in Scientific Reports, identified 21 suggestive genetic regions associated with endometriosis in Indian women. The strongest signal was near the LINC00415/SHISA2 region on chromosome 13. Researchers also found genetic signals with previously identified endometriosis triggers and found that a risk score developed from European populations showed relevance in the Indian cohort.The findings are not ready for clinical use or individual risk prediction. But researchers say they provide an important starting point for larger studies, particularly among South Asian populations that have been underrepresented in genetic research on endometriosis. “When I started working on endometriosis research nearly two decades ago, I was struck by how many women had lived for years with severe period pain, chronic pelvic pain or infertility before receiving a diagnosis,” said Dr Rahul Gajbhiye, Scientist and Head, Clinical Research Laboratory, ICMR–National Institute for Research on Women’s Health (ICMR–NIRWoH), Mumbai, and principal investigator of the study.Also read | Beyond the uterus: What rare male endometriosis cases reveal about the disease“Some women also told me that their mother or sister had suffered from very similar symptoms but had never been diagnosed. At that time, I could see a possible familial pattern, but I did not have the scientific tools or Indian genetic data to answer why this was happening,” he said.Building an Indian genetic datasetGajbhiye began examining the genetic basis of endometriosis more systematically during his INSA postdoctoral fellowship at the University of Queensland, Australia, in 2017–18, where he received training in the genetics and genomics of the disease.After returning to India, he was awarded a DBT Wellcome India Alliance Clinical and Public Health Intermediate Fellowship in 2019. The fellowship enabled the establishment of the Endometriosis Clinical and Genetic Research in India (ECGRI) initiative and the creation of a clinical and genomic dataset of Indian women.The study involved 18 centres across India, bringing together gynaecological laparoscopic surgeons, clinicians, researchers and laboratory teams. Women with surgically confirmed endometriosis and control participants were recruited from different geographical regions and ancestry backgrounds.Story continues below this adDr Sandhya Anand, lead author of the study, said the 21 suggestive genetic regions provided new leads for understanding endometriosis in Indian women. “Our findings are not for immediate clinical testing, but they provide an important foundation for future South Asian studies on endometriosis biology, genetic risk and early recognition,” she said.Also read | Endometriosis relief without surgery: Is pt possible?A disease affecting millionsEndometriosis affects about 10% of women of reproductive age, according to widely cited estimates. Despite its prevalence, diagnosis is often delayed for years, with symptoms such as severe menstrual pain frequently normalised or dismissed.Researchers say the problem is particularly important in India, where awareness, early recognition, access to specialised care and population-specific research evidence remain limited.Much of the existing genetic research on endometriosis has been based on populations of European ancestry. The new Indian dataset, therefore, adds an important South Asian component to global research into the disease.Story continues below this adDr Geetanjali Sachdeva, Director, ICMR–NIRWoH and a co-author, said Gajbhiye had established one of the largest Indian research datasets on endometriosis, combining detailed clinical information with genomic data and a dedicated biorepository. “This platform is one of the first of its kind in India for endometriosis research and provides a foundation for future studies on disease mechanisms, risk prediction, non-invasive diagnostics and translational women’s health research,” she said.Potential for earlier diagnosisThe study comes as the World Health Organization (WHO) is developing new guidelines on endometriosis management, reflecting the growing recognition of the disease as a major public health concern.Researchers caution that the genetic findings cannot yet be used to tell an individual woman whether she will develop endometriosis. But they could eventually help scientists understand why some women are more susceptible, identify biological pathways involved in the disease and explore new approaches to earlier diagnosis and treatment.For Gajbhiye, the findings “provide a foundation for larger studies on earlier recognition and, eventually, more personalised treatment.”