NEW DELHI: An estimated 50 million women in India have endometriosis, a chronic disorder that causes pain, especially during menstrual periods, and can lead to fertility problems.
Now, there is some hope for women who have suffered in silence for years, as their pain is often normalised or largely ignored.
A latest study by the Indian Council of Medical Research-National Institute for Research on Women’s Health (ICMR-NIRWoH), Mumbai, has found that genetic factors contribute to a woman’s risk of developing endometriosis, and that some of this risk may be inherited.
Published in Scientific Reports, a Springer Nature journal, the study provides the first genome-wide evidence of genetic risk for endometriosis in Indian women. It also lays the foundation for future research into early diagnosis, risk prediction and disease mechanisms.
“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 Rahul K Gajbhiye, Scientist E and Head, Clinical Research Laboratory, ICMR-NIRWoH, told this paper.
“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,” said Dr Gajbhiye, who is the corresponding author of the study.
He said the findings may help scientists understand why endometriosis develops and support future research into earlier diagnosis and more personalised treatment.
Globally, the study also helps address the long-standing underrepresentation of South Asian women in genetic research on endometriosis and adds Indian data to international efforts to understand why the condition occurs and how it may affect women differently across populations.
The study also comes at an important time globally, as the World Health Organization (WHO) is developing new guidelines for endometriosis management, reflecting the growing recognition of endometriosis as a major public health priority.
Endometriosis affects nearly 10% of women of reproductive age, or approximately 247 million women globally. It is a long-term health condition in which tissue similar to the lining of the uterus grows outside the uterus.
It can cause severe period pain, chronic pelvic pain, painful intercourse, fatigue, infertility, anxiety, depression and a poor quality of life.
In India, many women suffer for years before receiving a diagnosis. The delay is particularly concerning because awareness, early recognition, access to specialised care and Indian research evidence on endometriosis remain limited.
For Indian women, one major question has remained under-studied: does genetic risk also contribute to endometriosis in our population?
The study, an outcome of the Endometriosis Clinical and Genetic Research in India (ECGRI) initiative and led by Dr Gajbhiye, is an important contribution to women’s health research in India and South Asia.
Dr Gajbhiye, who conceived the ECGRI study during his Indian National Science Academy (INSA) postdoctoral fellowship at the University of Queensland, Australia, further said that the study connects an Indian priority with a global scientific gap.
“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.
According to Dr Sandhya Anand, lead author of the study, “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.
Dr Geetanjali Sachdeva, Director, ICMR-NIRWoH, and co-author of the study, said: “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.
The study involved 18 sites across India, including public and private hospitals, and created a national network of gynaecological laparoscopic surgeons, clinicians, researchers and laboratory teams.
Women with surgically confirmed endometriosis and controls were recruited from different geographic regions and ancestry backgrounds across India.
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.