Vagina MuseumOct 12, 2023
Is endometriosis genetic? It's well known that it runs in families. You're much more likely to have endometriosis yourself if you have a close relative with the condition, so there's definitely a genetic component. But do we know much about genes involved? Let's take a look!
Show threadVagina MuseumOct 12, 2023

There's a few main ways researchers can investigate genetics and a disease. Family studies look at relatives to estimate how heritable a condition is. Family studies show that endometriosis is 50% heritable: 50% of risk can be attributed to genetics.

A method at looking at specific areas of the genome can also be used to study this question. A genome-wide association study compares data from people with a condition to a healthy control group looking for areas where the genome differs.

Show threadVagina MuseumOct 12, 2023

In recent years, there have been quite a few genome-wide association studies looking at endometriosis. These studies compare genome data from people with endometriosis to data from those without. This year, a major meta-analysis by Nilufer Rahmioglu and colleagues put together 25 datasets to get an overview of endometriosis and genetics.

In total, data from more than 60,000 people with endometriosis and 700,000 controls were included!

Show threadVagina MuseumOct 12, 2023
This huge dataset revealed 42 loci (areas on the genome) which are associated increased risk of endometriosis, and 49 signals from these areas. There's a lot of different things going on with endometriosis.
Show threadVagina MuseumOct 12, 2023
Some variants were found to be associated with how the endometriosis presented: for example, some were more common in those with endometriosis affecting the ovaries than less severe types of endometriosis affecting other areas of the pelvis.
Show threadVagina MuseumOct 12, 2023
Many of the variants associated with endometriosis were also associated with other things. Some have functions in uterine development, inflammation and sex hormones. And crucially, seven variants are linked to pain perception and maintenance.
Show threadVagina MuseumOct 12, 2023
The study found that endometriosis is also linked with other chronic conditions. Many of these conditions are other chronic pain conditions, such as migraine and lower back pain. Inflammatory conditions asthma and osteoarthritis were also correlated - there could be shared genes!
Show threadVagina MuseumOct 12, 2023

In this huge study, the tip of the iceberg has been revealed, but the variants so far identified still only tell a fraction of the story so far. But there could be massive implications to these genetic studies...

Knowing more about subtypes of endometriosis could lead to targeted treatments. And knowing more about the links with pain could lead to designing new treatments, or identifying better treatments for endometriosis-related pain.

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Our exhibition Endometriosis: Into the Unknown opens this November. It will take you on a voyage of discovery from the basics of endometriosis to the cutting edge of research, exploring myths and the reality of living with the condition along the way. https://www.vaginamuseum.co.uk/currentexhibition
Oct 12, 2023 at 1:55pmWeb
Show threadVagina MuseumOct 12, 2023
If you'd like to read Rahmioglu and colleagues' paper, you can find it here https://www.nature.com/articles/s41588-023-01323-z
The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions - Nature Genetics

Meta-analyses of genome-wide association studies for endometriosis identify 49 distinct association signals. Fine-mapping of causal variants explores functional effects across various tissues. Genetic correlations between endometriosis and other pain conditions are also highlighted.

Nature