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Researchers at the ICMR-National Institute for Research on Women's Health (ICMR-NIRWoH), Mumbai, reported in September 2026 the first genome-wide association study of endometriosis in Indian women.
The study analysed DNA from 2,523 women recruited through 18 public and private hospitals across India, in collaboration with Australia's University of Queensland.
It identified 21 genetic regions associated with endometriosis risk, including the known loci WNT4 and CDKN2B-AS1, with the strongest signal on chromosome 13.
The findings were published in the peer-reviewed journal Scientific Reports, with Dr Sandhya Anand as lead author and Dr Rahul K Gajbhiye as principal investigator.
Endometriosis affects roughly 10% of women of reproductive age worldwide - about 247 million - with an estimated 50 million cases in India; there is no cure, only management of symptoms.
A GWAS scans the whole genome of many people with and without a condition, looking for genetic variants that appear more often in those affected. It flags regions linked to risk; it does not by itself prove that a gene causes the disease.
Simple Analogy: Comparing two crowds to spot which badges the affected group wears more often.
ICMR institute that led the study; formerly the National Institute for Research in Reproductive and Child Health (NIRRCH), it works on reproductive and women's health research. Established in 1970 by merging ICMR's Reproductive Physiology Unit and Contraceptive Testing Unit.
India's apex body for the formulation, coordination and promotion of biomedical research; funds and runs a national network of institutes. Founded in 1911 as the Indian Research Fund Association and renamed ICMR in 1949.
Australian partner institution that contributed genetic analysis expertise; its research groups have led several of the large international endometriosis genetics studies.
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A chronic condition in which tissue resembling the uterine lining grows outside the uterus, causing pain and often infertility.
A fixed position on a chromosome where a particular gene or marker is located; the study identified 21 such regions linked to risk.
A genetic association found in one ancestral population but not prominent in others, which is why studies must be repeated across populations.