Genetic Study Reveals Endometriosis and New Risks

In honor of Endometriosis Awareness Month, the biggest genetic research study regarding endometriosis suggests there are crucial genetic variants that enlarge the risk of the disease.

In endometriosis, the uterus' covering, or endometrial, proliferate outside the womb. Approximately 11% of women between the ages of 15 and 44 experience endometriosis in the United States, and is especially common in women in their 30s and 40s. Left untreated, it can cause pregnancy complications and severe pain or bleeding.

Endometriosis can also cause stomach problems such as bloating, diarrhea, nausea, and constipation.

Oxford University's Professor Krina Zondervan and Nilufer Rahmioglu, Ph.D., and 24 research teams globally created the most extensive genetic study of endometriosis that highlights the critical risks of the disease. The new study, published in Nature Genetics, suggests delving into endometriosis causes by looking at how genetics can provide indications of the disease.

"Very little is known about the causes of endometriosis, but studying genetics can give us clues to the biological processes that are the basis for onset and progression,” says a research fellow at the University of Queensland and a co-author of the new study Sally Mortlock, Ph.D.

The team gathered 60,674 European and East Asian females with endometriosis and 701,926 females without it as a control group to conduct a genome-wide association study (GWAS), with data collected from UK Biobank and 23andMe.

"Using different datasets of women with and without endometriosis, some of which had unprecedented detailed data on surgical findings and pain experience collected using standardized criteria, allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience," says Rahmioglu.

Before the new study, 17 genetic areas were recognized to be linked with endometriosis. The research team, however, discerned 42 genome-wide significant loci correlated with the disease.

"We can find out what genes in these regions do and find new drug targets, leading to new treatments," continues Mortlock.

Some genes linked with endometriosis include SRP14/BMF, GDAP1, MLLT10, BSN, and NGF.

The team also found that specific genetic risk factors were linked to other conditions. "We observed significant genetic correlations between endometriosis and 11 pain conditions, including migraine, back and multisite chronic pain (MCP), as well as inflammatory conditions, including asthma and osteoarthritis," states the paper.

To dig deeper into the work, the team says more investigations and study is needed to "aid the development of new treatments and facilitate early symptomatic intervention. Perhaps in some cases, we need to be designing pain treatments rather than hormonal treatments."