Endometriosis and irritable bowel syndrome share genetic risk factors, UQ research shows

Reviewed by Danielle Ellis, B.Sc.Oct 26 2023

University of Queensland 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 Montgomery and Dr Sally Mortlock at UQ's Institute for Molecular Bioscience 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.

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

Professor Grant Montgomery, UQ's Institute for Molecular Bioscience

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.

"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.

"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.

Professor Montgomery and Dr Mortlock worked with Dr Fei Yang from IMB and 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.