A team of international scientists led by the Queensland Institute of Medical Research (QIMR) has identified four new gene regions linked to endometriosis.


The study of 5,640 Australian, Japanese and European women with the often painful gynaecological condition yielded significant findings for the team.


Lead author, QIMR’s Associate Professor Dale Nyholt, said the findings were a major genetic discovery in a condition with so many unknowns.


“These discoveries will help us identify the underlying biological mechanisms of endometriosis, which we can ultimately use to develop new diagnostics and treatments. 


This study provides those all-important foundations for future research,” Associate Professor Nyholt said.


The condition affects an estimated 10 per cent of Australian women, and accounts for as much as half of all female infertility. Endometrium tissue, normally found lining the uterus, instead grows outside the uterus and on pelvic organs. The condition causes pelvic pain, menstrual disturbance, scarring and tissue damage.


Co-investigator, Professor Grant Montgomery from QIMR’s Molecular Epidemiology Laboratory, said the international study drew on QIMR’s biobank of endometriosis samples, as well as Japanese and European cases.


“Interestingly, the genetic regions identified were largely the same in Japanese and European women and similar genetic risk factors affect endometriosis in both populations,” Professor Montgomery said.