First Indian Genome Study Finds Genetic Clues Linked to Endometriosis Risk

Genetic factors may help explain why some Indian women develop endometriosis, with India's first genome-wide study identifying several genetic signals linked to the condition.

Published in Scientific Reports, the study identified 21 suggestive genetic regions associated with endometriosis among Indian women. The strongest signal was found on chromosome 13. Researchers also identified genetic signals that overlapped with previously reported endometriosis-related markers.

The findings add to growing evidence that genetics may influence susceptibility to endometriosis, a condition in which tissue similar to the uterine lining grows outside the uterus. It can cause severe period pain, chronic pelvic pain and infertility, and diagnosis is often delayed for years.

The research involved women with surgically confirmed endometriosis and control participants recruited through 18 centres across India. Researchers combined clinical information with genomic data to build a large Indian dataset through the Endometriosis Clinical and Genetic Research in India initiative.

Importantly, the study does not mean that genetic testing can currently predict whether an individual woman will develop endometriosis. Researchers also found that a genetic risk score developed using European populations showed relevance in the Indian group, but more research is needed before such scores could have clinical value.

Scientists say the study is particularly important because much previous genetic research on endometriosis has focused on people of European ancestry, while South Asian populations have been underrepresented.

The newly identified genetic regions could help researchers better understand how endometriosis develops and why susceptibility may differ between individuals. They may also provide clues for developing earlier diagnostic tools and, eventually, more personalised treatments.

Researchers emphasise that larger studies involving more South Asian women are needed to confirm these findings. For now, the study provides an important foundation for understanding the genetic basis of endometriosis in Indian women and improving future research into earlier recognition and treatment.

REFERENCE: Anand, S., Munshi, H., Shekhar, S. et al. Genome-wide association analysis of endometriosis in Indian women supports shared genetic susceptibility and suggestive population specific signals. Sci Rep (2026). https://doi.org/10.1038/s41598-026-69642-9