Page 23 - Aspire April -2023 Vol 8 / Issue 2

ENDOMETRIOSIS SIG
Chii-Ruey Tzeng (Taiwan) Luk Rombauts (Australia) Tasuku Harada (Japan) Yutaka Osuga (Japan)
Ground breaking study explores genetic basis in endometriosis and other pain conditions
By Professors Chii-Ruey Tzeng, Luk Rombauts, Tasuku Harada and Yutaka Osuga
Exciting new research on the genetics of endometriosis has just been published in Nature Genetics.
Nilufer Rahmioglu was the first author of this impressive paper. The study is the largest of its kind, with a collaboration between 25 global centres and data from over 60,000 women with endometriosis and 700,000 population controls.
Following are some highlights from the study:
The researchers compared the DNA of women with endometriosis to those without the condition and discovered over 40 areas in the genome that contain endometriosis risk variants, with 31 of them being novel.
They then investigated the effect of these risk variants on gene expression and DNA methylation patterns in both endometrial tissue and blood to better understand their impact on genes and biology.
The study also found that ovarian endometriosis (endometrioma) may have a different genetic basis than superficial peritoneal disease. Additionally, there appears to be a shared genetic basis between endometriosis and other pain conditions, such as migraine, back pain, and multi-site pain.
This finding highlights a number of genes implicated in pain mechanisms supporting the theory that chronic pain patients can experience sensitisation of the central nervous system due to genetics.
Professor Krina Zondervan, the senior author of the paper, said the finding that multiple pain conditions, including endometriosis, have a shared genetic basis is in line with epidemiological studies showing an increased prevalence of seemingly unrelated pain conditions.
These findings open up the possibility of designing new painfocussed, non-hormonal treatments, or repurposing existing pain treatments for endometriosis.
Overall, this study provides a wealth of new information that could lead to the development of new treatments targeted at specific sub-types of endometriosis and the symptoms.
It may also help with the development of non-invasive diagnostic methods. The collaborative effort of the study’s 25 global centres and the vast amount of data collected has made this ground-breaking research possible.
For more information, go to https://rdcu.be/c7vRf
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