This site is intended for health professionals only

Genetic study reveals clues for better treatment of endometriosis

Genetic study reveals clues for better treatment of endometriosis

Scientists have found that endometriosis is rooted in a patient’s genetics, paving the way for the development of new medications to treat the disease and ‘benefiting millions of women worldwide’.

The most extensive study to date involving over 700 000 women shows a shared genetic basis for endometriosis and other types of pain, such as migraine, back pain and multi-site pain, which have in the past, been assumed to be unrelated to endometriosis.

The findings are published in Nature Genetics and highlight the possibility of re-purposing existing pain medication for endometriosis treatment and developing specific medication for sub-types of the disease.

Endometriosis can be a debilitating illness which can negatively impact a women’s fertility, as well as causing intense pelvic pain, fatigue, depression and anxiety. It is a severe inflammatory condition and affects between 5 and 10 percent of women of reproductive age globally. Characterised by tissue known as endometrium, which resembles the uterus lining but grows outside the uterus, a definite diagnosis can only occur through surgery.

In some cases, endometriosis is hereditary, but this is not always true. Researchers from the University of Oxford collaborated with 25 teams worldwide to discover more about the disease’s onset and progression. They examined the DNA of 60,600 women with endometriosis and 701,900 without.

The analysis revealed 42 areas across the genome which harbour variants that can lead to an increased risk of endometriosis. Molecules in the blood and endometrium were then examined and linked to the genetic variants, allowing the researchers to identify a range of genes that were expressed differently in these tissues and, therefore, likely to be related to the development of endometriosis.

The genetic analysis showed that the genes implicated in the development of endometriosis also played a role in pain perception across the body.

There was a  shared genetic basis for endometriosis and other chronic pain types such as migraine, back pain, and multi-site pain. The researchers suggest that this could be related to sensitisation of the central nervous system, where patients experiencing one type of chronic pain are often more sensitive to pain in other parts of the body.

Dr Nilufer Rahmioglu, from the University of Oxford and first author of the study, said the study had provided a wealth of new knowledge.

‘Using different datasets of women with and without endometriosis, some of which had unprecedented detailed data on surgical findings and pain experience, allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience,’ she said.

The researchers hope that the findings will open up the possibility of designing new pain-focused non-hormonal treatments as well as repurposing existing pain treatments for endometriosis.

Professor Krina Zondervan, also from the University of Oxford, added: ‘Endometriosis is now recognised as a major health issue affecting women’s lives. This study will help the research community in their efforts to come up with new treatments and possibly new ways of diagnosing the disease benefiting millions of women worldwide.’


See how our symptom tool can help you make better sense of patient presentations
Click here to search a symptom