Nashik: In a breakthrough that could transform the diagnosis of endometriosis, an Indian Council of Medical Research-led study has identified 21 genetic regions linked to the condition in Indian women — including a strong high-risk signal near the LINC00415/SHISA2 region on chromosome 13 — laying the groundwork for early detection and treatment.
Published in scientific reports section of ‘Springer Nature’ on Sept 5, the first-of-its-kind nationwide genome-wide study analysed 2,523 women across 18 centres and found that Indian women share key genetic susceptibility patterns with populations studied worldwide, while also exhibiting population-specific genetic signals.
Endometriosis, in which tissue similar to the uterine lining grows outside the uterus, affects nearly 5 crore women in India and an estimated 24.7 crore women globally. The chronic condition can cause debilitating menstrual and pelvic pain, infertility, fatigue, anxiety and depression. Experts say many women spend years seeking a diagnosis because symptoms are dismissed as normal period pain.
The study, conducted under the Endometriosis Clinical and Genetic Research in India (ECGRI) initiative, identified 21 suggestive genetic regions associated with the disease, with the strongest signal emerging near the chromosome 13 SHISA2 locus.
“Endometriosis affects women across the world, but the genetic evidence base has largely come from non-South Asian populations. Our study shows that Indian women share some genetic susceptibility with other populations and provides a foundation for research rooted in Indian patients and genetic diversity,” said Dr Rahul Gajbhiye, principal investigator and scientist at ICMR-NIRRCH.
Researchers also detected shared genetic signals at established endometriosis loci, including WNT4 and CDKN2B-AS1, and found that a European-derived polygenic risk score was relevant in the Indian cohort.
Lead author Dr Sandhya Anand said the findings could help advance future risk prediction and early diagnosis. “These findings are not meant for immediate clinical testing, but they provide an important foundation for understanding endometriosis biology, genetic risk and earlier recognition of the disease in South Asian populations,” she said.
According to researchers, the new dataset could ultimately support non-invasive genetic screening using polygenic risk scores, helping identify women at higher risk before symptoms become severe and enabling timely intervention and fertility preservation.
The study found a median participant age of 29.2 years, underscoring what researchers describe as India’s exceptionally high burden among adolescents and young women.
“Many women suffer for years before receiving a diagnosis because their pain is often normalised or ignored. The findings highlight the need for greater awareness and for breaking the stigma surrounding menstrual health,” said Gajbhiye.
Scientists said the research arrives as the World Health Organization prepares fresh guidelines on endometriosis management, helping fill a major gap in genomic data from South Asia and moving the field closer to precision medicine for women affected by the condition.
Dr Sandhya Anand (lead author), Dr Geetanjali Sachdeva (director, ICMR-NIRRCH), and Prof Grant W Montgomery, Prof Gita D Mishra, and Dr Sally Mortlock from the University of Queensland, Australia, were also involved in the study.
