India’s first nationwide genome-wide study on endometriosis has identified genetic factors that may influence a woman’s risk of developing the condition. Researchers analysed genetic data from 2,523 women across 18 centres and identified 21 genetic regions linked to endometriosis.
The strongest signal appeared on chromosome 13 near the SHISA2/LINC00415 region. Researchers also identified signals in known endometriosis-associated regions, including WNT4 and CDKN2B-AS1.
Why the Study Matters
Most previous genetic studies on endometriosis have focused on European and East Asian populations. Therefore, this research provides valuable genetic data from Indian women.
As per The Economic Times, the findings could help researchers better understand the genetic basis of endometriosis and support future advances in diagnosis and treatment.
Potential for Earlier Diagnosis
Endometriosis can cause severe pelvic pain, painful periods and infertility, yet many women face delays in diagnosis. Understanding genetic risk could eventually help doctors identify women who are more susceptible to the condition.
However, the researchers note that these findings are not yet ready for routine clinical testing. Larger studies will be needed before genetic screening can become part of standard healthcare.
A Step Towards Precision Medicine
The study provides an important foundation for future endometriosis research in India. In the long term, these findings could contribute to earlier diagnosis and more personalised treatment approaches.