A first-of-its-kind genome-wide study of Indian women has identified genetic factors that may influence the risk of developing endometriosis, offering new direction for research into early detection and personalised care.
The study was conducted by the Indian Council of Medical Research–National Institute for Research on Women’s Health (ICMR-NIRWoH), Mumbai, and published in Scientific Reports, a Springer Nature journal. Researchers found genetic variations associated with endometriosis in Indian women, while also identifying genetic links shared with women from other populations.
Endometriosis is a chronic condition in which tissue similar to the lining of the uterus develops outside the uterus. It affects nearly 10% of women of reproductive age worldwide, estimated at around 247 million women.
The condition can cause severe menstrual pain, chronic pelvic pain, painful intercourse, fatigue and infertility. It may also affect mental health and overall quality of life.
In India, an estimated 50 million women are living with endometriosis. Many experience symptoms for years before receiving a diagnosis, highlighting the need for greater awareness, earlier recognition and access to specialised care.
First genome-wide evidence from India
Led by Dr Rahul K Gajbhiye, Scientist E and Head of the Clinical Research Laboratory at ICMR-NIRWoH, the research provides the first genome-wide evidence of genetic susceptibility to endometriosis in an Indian population.
“India’s first large genetic study of endometriosis found genetic differences that may be linked to the condition in Indian women, while also confirming shared genetic risk with women in other countries,” Dr Gajbhiye, corresponding author of the study, said.
“For Indian women, this is important because future screening, risk assessment and care can increasingly be based on Indian data rather than relying mainly on studies from Western populations,” he added.
The findings could help researchers better understand how endometriosis develops and guide future work on early diagnosis, risk prediction and personalised treatment.
The research also helps address the limited representation of South Asian women in global genetic studies of endometriosis.
Key genetic signals identified
The study identified 21 suggestive genetic regions linked to endometriosis among Indian women. The strongest signal was found near the LINC00415/SHISA2 region on chromosome 13.
Researchers also identified shared genetic signals at previously known endometriosis-related regions, including WNT4 and CDKN2B-AS1, through cross-ancestry analysis.
Dr Sandhya Anand, lead author of the study, said:
“Our study identified 21 suggestive genetic regions associated with endometriosis in Indian women, with the strongest signal near the LINC00415/SHISA2 region on chromosome 13. We also found shared genetic signals at known endometriosis loci, such as WNT4 and CDKN2B-AS1, through cross-ancestry analysis. We observed that a European-derived polygenic risk score showed relevance in the Indian cohort.”
“These 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,” Dr Anand said.
National research network
The research was carried out under the Endometriosis Clinical and Genetic Research in India (ECGRI) initiative. Dr Gajbhiye conceived the initiative during his Indian National Science Academy (INSA) postdoctoral fellowship at the University of Queensland, Australia.
The project brought together 18 centres across India, including public and private hospitals. The network involved gynaecological laparoscopic surgeons, clinicians, researchers and laboratory teams.
Women with surgically confirmed endometriosis, along with control participants, were recruited from different parts of the country and represented varied geographic and ancestry backgrounds.
Dr Hrishikesh Munshi, co-author of the study, said:
“From a clinical perspective, the strength of this study lies in the careful recruitment of women with surgically confirmed endometriosis through experienced laparoscopic surgeons across India. Accurate clinical diagnosis and standardised phenotyping are essential for meaningful genetic research.”
“This clinical foundation makes the ECGRI dataset valuable not only for the present GWAS, but also for future studies on symptoms, disease severity, infertility, and long-term outcomes in Indian women with endometriosis,” Dr Munshi added.
Foundation for future research
Dr Geetanjali Sachdeva, Director, ICMR-NIRWoH, and co-author, highlighted the scale of the research platform created through the initiative.
“Dr Gajbhiye has established one of the largest Indian research datasets on endometriosis, including detailed clinical data, genomic data from women with and without endometriosis, 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 added.
Dr Gajbhiye said the research could help bring greater focus to Indian genetic diversity and clinical realities.
“For India, this work builds the foundation for endometriosis research rooted in our patients, our clinical realities, and our genetic diversity. Globally, it adds South Asian evidence to the field and supports a future where genomic research, risk prediction, and precision medicine are more inclusive and equitable,” he said.
The study comes as endometriosis receives increasing attention as a global public health concern, with the World Health Organization working on new guidelines for its management.
The findings mark an important step for endometriosis research in India. While the genetic signals are not yet ready for routine clinical testing, the study creates a valuable foundation for understanding disease risk among Indian women and could eventually contribute to earlier diagnosis, better risk assessment and more personalised care.