8 September 2026 (Navroze Bureau) : India’s first genome-wide association study (GWAS) of endometriosis has provided new evidence that genetic factors may play an important role in determining a woman’s susceptibility to the condition.
The study, involving researchers and participants from across India, identified 21 suggestive genetic regions associated with endometriosis and found evidence of genetic susceptibility shared with findings from other populations. The research could help improve understanding of the disease and eventually contribute to earlier recognition and more personalised care.
What Is Endometriosis?
Endometriosis is a chronic gynaecological condition in which tissue similar to the lining of the uterus grows outside the uterus.
It can cause pelvic pain, painful periods, infertility and reduced quality of life. The condition affects about 10% of women of reproductive age worldwide.
For many women, diagnosis can take years because symptoms may overlap with other conditions and are sometimes normalised as routine menstrual pain.
India’s First Endometriosis GWAS
The new research is significant because Indian and South Asian women have historically been underrepresented in global genomic studies of endometriosis.
Conducted under the Endometriosis Clinical and Genetic Research in India (ECGRI) initiative, the study involved 18 collaborating sites across India, including public and private tertiary-care centres. Researchers worked with participants from diverse geographical and ancestry backgrounds.
21 Genetic Regions Identified
Researchers identified 21 suggestive genetic regions associated with endometriosis among Indian women.
Importantly, these findings require further validation before the individual genetic signals can be considered definitive risk markers.
The study also found evidence that some genetic susceptibility regions already linked to endometriosis in international research are relevant to Indian women as well.
WNT4 and CDKN2B-AS1 Among the Known Signals
The research found shared genetic susceptibility at established endometriosis-associated regions, including WNT4 and CDKN2B-AS1.
These findings suggest that at least some of the biological pathways contributing to endometriosis risk may be shared across populations, while population-specific genetic signals may also exist.
Does This Mean Endometriosis Is Inherited?
Not necessarily.
Endometriosis is considered a complex condition, meaning that genetics is one part of the picture rather than a single gene determining whether someone develops the disease.
Genetic susceptibility can interact with hormonal, biological and environmental factors. Therefore, having genetic risk does not mean that a woman will definitely develop endometriosis.
Why Indian Genetic Data Matters
Genomic research based specifically on Indian populations can help scientists determine whether genetic risk patterns identified elsewhere apply equally to Indian women.
It can also reveal signals that may be more relevant to particular Indian or South Asian populations.
The researchers say the new dataset provides an important foundation for future studies of disease biology, risk prediction and personalised approaches to care.
Could It Help With Earlier Diagnosis?
One potential long-term benefit of genetic research is improved risk prediction and earlier recognition.
Endometriosis is often diagnosed after prolonged symptoms. Better understanding of genetic susceptibility could eventually help researchers identify women who may warrant closer evaluation.
However, the current study does not establish a genetic test that can diagnose endometriosis on its own. More research and validation would be required before genomic markers could be used routinely in clinical practice.
A Step Towards Personalised Care
The researchers say the findings could eventually contribute to more personalised approaches to endometriosis management.
Understanding how genetic differences influence disease susceptibility and biology may help scientists investigate why symptoms and treatment responses vary between individuals.