Delving into the pain of endometriosis
A new global study has found genetic evidence that links endometriosis to a range of other types of chronic pain. Supported by the EU-funded FEMaLe, ERIN and TRENDO projects, this is the largest study of the genetic basis of endometriosis to date, resulting from the collaboration of 25 teams across the globe.
A major health issue
Endometriosis – a disease that causes tissue similar to the uterus’ lining to grow outside the uterus – is associated with severe pain, fatigue, and sometimes even depression, anxiety and infertility. Although it affects about 190 million girls and women of reproductive age worldwide, researchers currently know very little about its causes. To gain insight into the disease’s genetic basis, the research team decided to compare the DNA codes of women with and without endometriosis. “Endometriosis is now recognised as a major health issue affecting women’s lives,” remarks study co-senior author Prof. Krina Zondervan of FEMaLe project partner University of Oxford, United Kingdom, in a news item posted on the university’s website. “This study involved the analysis of DNA from more than 60,000 women with endometriosis worldwide, in an unprecedented collaboration of 25 academic and industry groups contributing their data and time.” The DNA of women who have the disease was compared with over 700 000 controls. The global study revealed 42 areas across the genome with variants that increase the risk of endometriosis. The researchers linked these variants to the profiles of molecules in the endometrium and blood and were able to identify a number of genes that were differently expressed in these tissues, therefore possibly playing a role in disease development. Some genetic variants were found to have a closer link to ovarian cystic endometriosis than superficial disease spread throughout the pelvis. The research also showed that these genes affect pain perception and maintenance. In fact, the team found significant genetic correlations between endometriosis and 11 pain types, such as migraine, back pain and multi-site chronic pain, and between endometriosis and inflammatory conditions such as asthma and osteoarthritis. “Using different datasets of women with and without endometriosis, some of which had unprecedented detailed data on surgical findings and pain experience collected using standardised criteria, allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience,” states study first author Dr Nilufer Rahmioglu, also from the University of Oxford. The results of the research supported by FEMaLe (Finding Endometriosis using Machine Learning), ERIN (Ethically Responsible INnovations in reproductive medicine) and TRENDO (Translational Research on Endometriosis) could pave the way for new pain-focused non-hormonal treatments that target endometriosis subtypes. Prof. Zondervan comments on the study: “It has provided a wealth of new knowledge on the genetics underlying endometriosis, which 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.” For more information, please see: FEMaLe project website ERIN project website
Keywords
FEMaLe, ERIN, TRENDO, endometriosis, pain, woman, female, disease, gene, DNA
