Five new gene regions linked to endometriosis

The University of Queensland

Tuesday, 13 June, 2017

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In the world’s largest study into the genetic causes of endometriosis, researchers have helped identify five new gene regions linked to the disease.

Endometriosis affects one in 10 women and can cause severe pelvic pain, fertility problems and bowel or bladder problems. The disorder causes tissue similar to the uterus lining abnormally growing outside the uterus. The cause of the condition itself, however, is currently unclear.

The new study combined results from 11 international genome-wide association studies, analysing data from more than 200,000 women. It included researchers from The University of Queensland (UQ), QUT, the QIMR Berghofer Medical Research Institute, 23andMe Inc, Harvard Medical School, deCODE Genetics and the University of Iceland, with the results published in Nature Communications.

“Although genes are not the only deciding factor for whether or not a woman will develop endometriosis, it’s important to identify genes increasing a woman’s risk so we can understand the factors causing this disease,” said Professor Grant Montgomery from UQ, who co-led the project.

“We know genetic factors account for 50% of a woman’s risk of developing endometriosis; however, it is not one gene mutation that causes this disease, but multiple genetic variations that contribute to incrementally increasing a person’s risk.”

Professor Montgomery said the study confirmed nine of the 11 previously reported gene regions associated with endometriosis, as well as uncovering five new regions. Identifying these regions is “a crucial first step”, he said, though he added that in each of these regions there are “a number of genes that could contribute to causing the disease”.

“Interestingly, the genetic regions we identified in this study suggest specific genes involved in the regulation and response to oestrogen are linked to endometriosis,” he said.

Professor Montgomery said the discovery gives scientists the opportunity to conduct more targeted research into the genetic causes of endometriosis. The ultimate aim will be to create new treatments and diagnostic methods for the disease.

“We are making significant progress towards achieving this goal,” Professor Montgomery said.

Image credit: © Popov

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