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Indian Genome Study Finds Genetic Clues to Endometriosis
Endometriosis is a condition in which tissue similar to the uterus lining grows elsewhere in the body.
It can cause severe period pain, pelvic pain, or infertility.
Researchers in India studied the genes of women with and without the condition.
They found 21 areas of DNA that might be connected to endometriosis.
One of the strongest signals was near two genes called LINC00415 and SHISA2.
This suggests that genes may help explain why some women develop the disease.
However, the results cannot yet tell an individual woman whether she will get endometriosis.
The study gives scientists a starting point for larger studies and possibly earlier diagnosis in the future.
India’s first genome-wide endometriosis study identified 21 suggestive genetic regions in Indian women.
The strongest genetic signal was near the LINC00415/SHISA2 region on chromosome 13.
Researchers found links to previously identified endometriosis signals and relevance for a European-derived risk score.
The findings are not yet suitable for clinical testing or predicting an individual woman’s risk.
The study created an Indian clinical and genomic dataset to support larger South Asian research and earlier diagnosis.
- Who
- Researchers led by Dr Rahul Gajbhiye, with Dr Sandhya Anand and Dr Geetanjali Sachdeva as named contributors, studied Indian women with and without endometriosis.
- What
- A genome-wide study identified 21 suggestive genetic regions associated with endometriosis in Indian women.
- Where
- The study involved 18 centres across India and participants from different geographical regions and ancestry backgrounds.
- When
- The study was published in Scientific Reports; the research initiative was established after Dr Gajbhiye’s 2019 fellowship.
- Why
- Researchers aimed to understand genetic susceptibility to endometriosis and create evidence to support larger studies, earlier recognition, and future treatment research.
Key facts
- Condition
- Endometriosis, in which tissue lining the uterus overgrows outside it
- Study type
- Genome-wide study
- Study population
- Indian women with surgically confirmed endometriosis and control participants
- Genetic findings
- 21 suggestive genetic regions associated with endometriosis
- Strongest signal
- Near the LINC00415/SHISA2 region on chromosome 13
- Research network
- 18 centres across India
- Clinical status
- Findings are not ready for clinical testing or individual risk prediction
Quotes
Dr Geetanjali Sachdeva
Director of ICMR–NIRWoH and study co-author
“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.”
indianexpress.com
“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.”
indianexpress.com






