Multiple Debilitating Pains – New global study shows the experience of Endometriosis is rooted in a person’s genetics.

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.

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. Their study included DNA from 60,600 women with endometriosis and 701,900 controls.

By conducting the largest genetic study ever conducted, the researchers found 42 areas across the genome that harbour variants that increase risk of endometriosis. By linking these variants to the profiles of molecules in endometrium and blood, they identified a range of genes that were differently expressed in these tissues and therefore had a likely role in disease development.

What they noted in particular is that many of the implicated genes play a role in pain perception and maintenance. Indeed, they found that there was a shared genetic basis for endometriosis and a range of other chronic pain types such migraine, back pain, and multi-site pain. This could be related to so-called sensitisation of the central nervous system, which makes individuals suffering from chronic pain more prone to other types of pain.

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.

Nilufer Rahmioglu was supported by a grant from Wellbeing of Women UK (RG2031) and the EU Horizon 2020-funded project FEMaLe project (ID 101017562).

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions