21 Novel Genes Found: Revolutionising Endometriosis Care
Endometriosis affects nearly 50 million women across India, causing debilitating pelvic pain and infertility. Unfortunately, clinicians often observe diagnostic delays lasting between 3 and 7 years. A breakthrough nationwide research initiative now promises to accelerate endometriosis genetic diagnosis through population-specific genomic discovery. Notably, the multi-centre study identified 21 novel genetic regions linked to the condition.
Unpacking the Nationwide Genome-Wide Association Study
Led by Dr. Rahul Gajbhiye from ICMR-NIRWoH, researchers conducted the country's first genome-wide association study on endometriosis. Specifically, the investigative team analysed genomic data from 2,523 women recruited across 18 public and private tertiary healthcare centres. Furthermore, surgical experts confirmed cases laparoscopically, with 85.5% presenting advanced stage III or IV disease. Collaborating centres including AIIMS Jodhpur and AIIMS Raipur provided diverse participant cohorts representing distinct Indian ancestral lineages. Consequently, the findings establish an invaluable genomic baseline for South Asian populations that historical Western datasets overlooked.
Key Genetic Findings and Biological Pathways
The investigation revealed 21 suggestive genetic loci uniquely associated with Indian cohorts. Notably, the strongest statistical signal localized near the LINC00415 and SHISA2 gene region on chromosome 13. In addition, the analysis validated previously recognized cross-ancestry loci such as WNT4 and CDKN2B-AS1. Researchers also demonstrated that European-derived polygenic risk scores remain relevant in Indian women. Therefore, the findings demonstrate both shared biological pathways and population-specific predispositions. As a result, these discovered variations provide fresh clues regarding abnormal endometrial tissue proliferation.
Clinical Implications for Deep Infiltrative Endometriosis
Deep Infiltrative Endometriosis represents the most destructive and debilitating manifestation of the condition. In this phenotype, invasive lesions penetrate deep into the rectum, ureters, and pelvic nerves. Dr. Shashank Shekhar from AIIMS Jodhpur emphasized the immense surgical challenges presented by these invasive cases. However, identifying high-risk genetic variants could transform preventive and early clinical interventions before severe tissue damage occurs. Moreover, AIIMS Jodhpur is developing an advanced multidisciplinary centre to integrate surgical excellence with molecular profiling.
The Future of Endometriosis Genetic Diagnosis in India
Currently, these preliminary genetic signals require prospective validation in larger multi-ethnic South Asian cohorts. Therefore, routine clinical genetic screening is not yet commercially available for individual risk prediction. However, this benchmark study lays the groundwork for validated diagnostic panels and early risk stratification. In the long run, integrating genomic biomarkers into initial evaluations will compress the frustrating multi-year diagnostic window. Consequently, clinicians can initiate targeted medical therapies earlier and safeguard reproductive potential.
Frequently Asked Questions
Q1: How does this genetic discovery impact clinical practice in India today?
Although commercial genetic testing is not yet available, these findings identify 21 risk loci that will accelerate early screening tools.
Q2: Why was chromosome 13 highlighted in the study?
Researchers detected the strongest statistical signal near the LINC00415 and SHISA2 regions on chromosome 13, highlighting novel targets in Indian patients.
Q3: How common is endometriosis in the Indian female population?
Approximately 50 million women in India live with endometriosis, representing nearly 20% of the entire global disease burden.
References
- Indian study finds 21 new gene types that could help diagnose endometriosisearlier - ETHealthworld
- Anand S, Mortlock S, Shekhar S, et al. Genome-wide association analysis of endometriosis in Indian women supports shared genetic susceptibility and suggestive population-specific signals. Scientific Reports. 2026;16(1).
- Press Information Bureau (PIB). First Genome-Wide Study on Genetic Risk of Endometriosis in India Yields Key Insights. Ministry of Health and Family Welfare, Government of India; 2026.
