Endometriosis could be genetic: First Indian genome study sheds light

A first-of-its-kind Indian study has identified 21 genetic regions linked to endometriosis, offering new clues to why some women may be more prone to the disease

5 min readPuneUpdated: Sep 9, 2026 03:07 AM IST

The findings are not ready for clinical use or individual risk prediction.

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.

Story continues below. Subscribe to see fewer ads.

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 dataset

Gajbhiye 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 ad

Dr 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 millions

Endometriosis 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 ad

Dr 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 diagnosis

The 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.”

Anuradha Mascarenhas

Anuradha Mascarenhas is a Senior Editor at The Indian Express, based in Pune. With a career spanning three decades, she is one of the most respected voices in Indian journalism regarding healthcare, science and environment and research developments. She also takes a keen interest in covering women's issues . Professional Background Education: A gold medalist in Communication and Journalism from Savitribai Phule Pune University and a Master’s degree in Literature. Author: She authored the biography At The Wheel Of Research, which chronicles the life and work of Dr. Soumya Swaminathan, the former Chief Scientist at the WHO. Key Focus: She combines scientific accuracy with storytelling, translating complex medical research into compelling public and human-interest narratives. Awards and Recognition Anuradha has won several awards including the Press Council of India's national award for excellence in journalism under the gender based reporting category in 2019 and the Laadli Media award (gender sensitivity -2024). A recipient of the Lokmat journalism award (gender category-2022), she was also shortlisted for the RedInk awards for excellence in journalism-2021. Her debut book At The Wheel Of Research, an exclusive biography of Dr Soumya Swaminathan the inaugural chief scientist of World Health Organisation was also nominated in the Popular Choice Category of JK Paper AUTHER awards. She has also secured competitive fellowships including the Laadli Media Fellowship (2022), the Survivors Against TB – New Research in TB Media Fellowship (2023) and is part of the prestigious 2025 India Cohort of the WomenLift Health Leadership Journey.” Recent Notable Articles (Late 2025) 1. Cancer & Specialized Medical Care "Tata Memorial finds way to kill drug-resistant cancer cells" (Nov 26, 2025): Reporting on a breakthrough for triple-negative breast cancer, one of the most aggressive forms of the disease. Discipline, diet and purpose; How a 97-year-old professor defies ageing'' (Nov 15, 2025) Report about Prof Gururaj Mutalik, the first Head of Department at Pune's B J Government Medical College who at 97 credits his longevity to healthy habits and a strong sense of purpose. 2. Environmental Health (The "Breathless Pune" Series) Long-term exposure even to 'moderate' air leads to chronic heart, lung, kidney issues" (Nov 26, 2025): Part of an investigative series highlighting that even "safe" pollution levels are damaging to vital organs. "For every 10 µg/m3 increase in PM2.5 level, there was 6-8% jump in medicine sales" (Nov 23, 2025): Using commercial data to prove the direct link between air quality and respiratory illnesses in Pune. 3. Lifestyle & Wellness News "They didn't let cancer, diabetes and heart disease stop them from travelling" (Dec 22, 2025): A collaborative piece featuring survivors who share practical tips for traveling with chronic conditions. At 17, his BP shot up to 200/120 mmHG; Lancet study flags why child and teen hypertension doubled between 2000 and 2020'' (Nov 12,2025)--A report that focusses on 17-year-old-boy's hypertensive crisis and reflects the rising global trend of high blood pressure among children and adolescents. 4. Scientific Recognition & Infrastructure For promoting sci-comm, gender diversity: IUCAA woman prof highlighted in Nature" (Nov 25, 2025): Covering the global recognition of Indian women scientists in gender studies and physics. Pune researchers find a spiral galaxy like the Milky Way from early universe'' (December 3, 2025)- A report on how Indian researchers discovered a massive galaxy that existed when the universe was just 1.5 billion years old , one of the earliest to have been observed so far. Signature Beat: Health, Science & Women in Leadership Anuradha is known for her COVID-19 reportage, where she was one of the first journalists to provide detailed insights into the Covishield and Covaxin trials. She has a dedicated interest in gender diversity in health and science, often profiling women researchers who are breaking the "leaky pipeline" in STEM fields. Her writing style is scrupulous, often featuring interviews with top-tier scientists and health experts from various institutions. ... Read More

Loading Recommendations...

Oct 01: Latest News

Live Blog