Queensland Institute of Medical Research scientists leading an international study have identified four new gene regions linked to endometriosis.

The genome-wide study of 5640 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’ve changed their contact details, or haven’t been approached recently, are asked to contact the project coordinator on free call: 1800 257 179 or email: [email protected]

The study, published today in the prestigious journal Nature Genetics, can be found online at www.nature.com/ng/index.html

Associate Professor Nyholt and Professor Montgomery are available for interview. An endometriosis patient is also available to speak about her experiences.

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The Queensland Institute of Medical Research (QIMR) is a world leading translational research institute focused on cancer, infectious diseases, mental health and a range of complex diseases. Working in close collaboration with clinicians and other research institutes, our aim is to improve health by developing new diagnostics, better treatments and prevention strategies.

For more information about QIMR, visit www.qimr.edu.au

Endometriosis facts:

Endometriosis is a condition where the endometrial cells (cells that form the lining of the uterus) begin growing elsewhere in the body. The endometrial tissue implants itself onto the surface of the tissue or organ where it has been deposited and begins to grow.

Endometriosis is very difficult to diagnose, because the symptoms are not well understood, and vary from one woman to the next. The condition is known to be associated with severe period pain and infertility. Some women may not have any symptoms at all.

Currently, the causes of endometriosis are still unknown. Surgery and pain management are currently the only treatments and there is no cure.