Genetics links endometriosis and IBS

27 October 2023

IMB researchers have shown that endometriosis and irritable bowel syndrome (IBS) share genetic risk factors, explaining why patients with one condition may also have the other.

Professor Grant MontgomeryDr Sally Mortlock and Dr Fei Yang found a significant relationship between the risks for endometriosis and common gastrointestinal disorders such as IBS, peptic ulcer disease (PUD) and gastro-oesophageal reflux disease (GORD).

“This genetic finding supports the clinical observation of an increased incidence of gastrointestinal disorders in women with endometriosis,” Professor Montgomery said.

Raising awareness

“We hope that this study will raise more awareness about the overlap of these conditions.”

Endometriosis is a severe condition affecting 1 in 7 women caused by tissue that resembles the uterus lining growing outside the uterus.

Women with endometriosis are twice as likely to have an IBS diagnosis compared to women without the disease and 1.4 times more likely to have a diagnosis of GORD.

Misdiagnosis can delay treatment

“Sufferers can find it difficult to distinguish the source of their pain leading to confusion or misdiagnosis and years of delay in treatment during which time the endometriosis can progress to more severe disease,” Professor Montgomery said.

“Endometriosis should be considered as a possible cause if a woman presents to her GP with abdominal pain and gastrointestinal symptoms.

Improving treatment and diagnosis

“As our knowledge of risk factors for endometriosis increases, we hope to move closer to understanding how the disease develops and improve treatments and diagnosis,” he said.

Dr Sally Mortlock and Professor Grant Montgomery

The IMB team worked with colleagues at UQ’s School of Public Health on the genetic studies.

The research was published in Cell Reports Medicine.

This study included data from the UK Biobank – a large-scale biomedical database and research resource containing anonymised genetic, lifestyle and health information from half a million UK participants. UK Biobank’s database, which includes blood samples, heart and brain scans and genetic data of the volunteer participants, is globally accessible to approved researchers who are undertaking health-related research in the public interest.

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Research at IMB is accelerating diagnosis timelines of endometriosis and improving overall treatment. Please donate to our endometriosis fund and help us make a difference to the lives of those living with endometriosis.

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