New Endometriosis Research Reveals Wider Array of Genetic Links to Disease

Researchers, co-led by University of Queensland academics, discover five additional DNA sections for disease affecting one in 10 Australian women




DNA samples taken from 17,045 women living with endometriosis were collected by researchers and compared to 191,858 samples from women without the disease.


Researchers are one step closer to identifying genes linked to a gynaecological disease affecting one in 10 Australian women.

A global study into the genetic causes of endometriosis has identified a wider array of genetic links to the disease than what was previously known.

The team of researchers, co-led by University of Queensland professor Grant Montgomery and associate professor Dale Nyholt, confirmed nine previously identified genomic regions – sections of DNA that contain our unique genetic code – and discovered an additional five.

The findings will pave the way for better diagnostics and treatments in future. “We found regions of the genome where there is an increased risk of endometriosis, and that is the first step to finding what genes are affected and how they increase risk,” Montgomery said.

DNA samples taken from 17,045 women living with endometriosis were collected by Australian and overseas researchers and compared to 191,858 samples from women without the disease.

“We don’t understand what the causes of endometriosis are, but if we can find the specific genes affected, then we will be able to understand the biology and the cause,” Montgomery said. “The next step is to actually work out the genes that are involved.”

Ten percent of Australian women live with endometriosis, a condition where cells similar to those found in the lining of the uterus grow outside of it, most commonly in the pelvis. In some cases, the tissue is also found around the heart, lungs, kidneys or other organs. Symptoms can include severe pain, difficult menstrual cycles, painful sex and infertility.

Endometriosis costs Australian society $7.7bn a year, with two-thirds of that attributed to lost productivity and the remaining $2.5bn to direct healthcare fees, a 2014 University of Sydney report found.

The president of the Queensland Endometriosis Association, Jessica Taylor, said she often heard stories from women who, like her, were incorrectly diagnosed with other medical conditions before their endometriosis was detected.

“On average it takes seven to 10 years for a diagnosis and … if there were measures in place to pick up the disease earlier people wouldn’t go through the horrors that so many do,” she said. “If you can catch it early, that would change someone’s life. “

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