Jodhpur: Endometriosis, a painful gynaecological disease in which tissue similar to the inner lining of the uterus grows outside it, may become easier to diagnose in Indian women after a first-of-its-kind study identified 21 new gene types associated with the condition.
The study is significant because endometriosis often takes 3 to 7 years to diagnose, even though it can cause severe menstrual pain, pain during intercourse, infertility and, in advanced cases, complications involving organs in the pelvic region. The Indian study could help build the genetic basis for earlier detection and timely treatment.
The research was conducted by ICMR-National Institute for Research on Women’s Health (NIRW-WH), Mumbai, to understand the genetic risk of endometriosis among women in India. It was led by Dr Rahul Gajbhiye, head of the Clinical Research Laboratory at ICMR-NIRW-WH, with participation from 18 govt and private medical institutions across the country.
Dr Shashank Shekhar, head of the unit of Obstetrics & Gynaecology at AIIMS Jodhpur, was a co-investigator in the study. Shekhar has conducted 150 high-precision Deep Infiltrative Endometriosis surgeries.
Deep Infiltrative Endometriosis, or DIE, is the most severe and complex form of the disease. In DIE, tissue similar to the uterus lining grows outside the uterus and deep into pelvic tissues, including the rectum, ureters and pelvic nerves. This can cause unbearable pain during menstruation and intercourse, infertility and a further risk of ovarian cancer.
Speaking to TOI, Shekhar said India records 20% of the world’s endometriosis cases, but the absence of India-specific genetic data has made diagnosis and prevention more challenging.
“We knew that the disease runs in family but had no knowledge about the gene or genes responsible for it,” Shekhar said. He added that while studies in some developed countries had already generated gene data, there was no such data for Indian women.
To fill that gap, researchers conducted a Genome-Wide Association Study on 2,523 women from different geographical regions and social backgrounds across the country. Of them, 400 were from AIIMS Jodhpur.
The study identified 21 new gene types associated with endometriosis, in addition to gene types already reported in studies abroad. Among these 21, the strongest signal was found on a gene type associated with chromosome 13. The study also found that Indian women have certain population-specific genetic signals.
Shekhar said the findings are not yet conclusive and need further study, but they mark an important starting point for understanding endometriosis in Indian women.
“In the future, this will help in earlier diagnosis of the disease, which currently takes 3 to 7 years,” he said, adding that early detection would mean earlier treatment.
Shekhar also said efforts are underway to establish a Centre for Advanced Research for endometriosis at AIIMS Jodhpur, which has emerged, since 2018, as a multidisciplinary advanced centre for endometriosis surgeries among govt centres across the country.
