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International study pinpoints endometriosis genes

Researchers in Australia, Japan and the UK have identified four new gene regions linked to endometriosis.

The genome-wide study of 5,640 Australian, Japanese and European women with endometriosis is a big step forward in understanding the causes of the often painful gynaecological condition.

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.

Endometriosis affects about 10% of Australian women and causes up to 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.

Dale Nyholt and Grant Montgomery secured further National Health and Medical Research Council (NHMRC) funding last week to continue their research into the genetic risk factors for endometriosis.

The QIMR team is now keen to track down the women who first contributed to the QIMR endometriosis biobank between 1995 and 2003. Those who have changed their contact details, or haven’t been approached recently, are asked to contact the project coordinator on free call: 1800 257 179 or

The study, published today in the prestigious journal Nature Genetics, can be found online at