International study pinpoints endometriosis genes

29 October 2012

Four new gene regions linked to endometriosis have been discovered in an international study involving University of Newcastle researchers.

The genome-wide study of 5648 Australian, Japanese and European women with endometriosis gives a significantly clearer picture of the causes of this gynaecological condition, which affects up to 10 per cent of Australian women and is responsible for about half of all female infertility.

The condition can also cause pelvic pain, menstrual disturbance, scarring and tissue damage.

Newcastle researchers Professor Rodney Scott*, Dr Elizabeth HollidayProfessor John Attia and Dr Mark McEvoy assisted the Queensland Institute of Medical Research (QIMR) in the gene study.

Results are published today in the prestigious journal Nature Genetics.

"We were asked by QIMR to provide genetic data from our Hunter Community Study (HCS) to bolster the control group for its study and increase the power of the sample," Professor Scott*" said.

"This is a major genetic discovery for such a complex disease, which will help in building risk profiles. It is a pleasing result for all those people who participated in the HCS."

Lead author Dale Nyholt, from QIMR, said the study provides all-important building blocks for future research. A follow-up study will identify similar genetic risks with other common health complaints associated with endometriosis.

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

Having drawn on a biobank of endometriosis samples, the study found that the genetic loci associated with the condition were largely the same in Europeans and Japanese women, dispelling a concern that different populations experience different subtypes of endometriosis.

HMRI is a partnership between the University of Newcastle, Hunter New England Health and the community.

* Professor Scott is co-leader of HMRI's Information Based Medicine Program and Director of the University of Newcastle's Centre for Bioinformatics, Biomarker Discovery & Information-Based Medicine.

Contact: Mark Rothfield
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