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Researchers at the University of Oxford in collaboration with 25 teams across the world have published the largest study to date of the genetic basis of endometriosis.

Faces of two women, overlaid with illustration of dna

Their study included DNA from 60,600 women* with endometriosis and 701,900 controls. It revealed compelling evidence of a shared genetic basis for endometriosis and other types of pain seemingly unrelated to endometriosis, including migraine, back pain and multi-site pain. The study has also revealed that ovarian endometriosis has a different genetic basis from other disease manifestations. The results open up new avenues for designing new medical treatments targeting subtypes of endometriosis, or even the repurposing of existing pain treatments for endometriosis.

Endometriosis has enormous implications on the quality of a woman’s life. This severe inflammatory condition occurring in 5-10% of women of reproductive age (190 million globally) can cause constant and intense pelvic pain, fatigue, depression, anxiety, and infertility. It is characterized by the presence of tissue that resembles the uterus lining (endometrium) outside the uterus. The location of these endometriotic deposits is primarily on organs within the pelvis (e.g. ovaries, pelvic surfaces and ligaments, bowel or bladder), although more rarely it can also be found outside of the pelvis.  The huge impact on the health of many women is compounded by the fact that endometriosis can only reliably be diagnosed through surgery and sometimes imaging, and often takes many years to diagnose (8 years on average from first symptoms). Treatment is limited to repeated surgeries, and hormonal treatments with many side-effects that do not allow women to get pregnant.

We know that endometriosis can run in families, and therefore that genetic factors (heritability) play a role in how it develops in some women but not in others. So: are we deep wired to endure this pain? Very little is known about the causes of endometriosis, and studying genetics - by comparing the DNA code in women with and without the disease - can give us clues to the biological processes that are the basis for onset and progression.

Read the full story on the Nuffield Department of Women's and Reproductive Health. 


* Individuals with endometriosis included were born female. Endometriosis can affect women and those assigned female at birth, and in very rare instances those born male (