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New genetic variants found to influence endometriosis risk


A study, led by researchers in Australia, found new genetic associations for endometriosis, a painful disorder that affects one in ten women, leaving many infertile.

Published this week in the journal Nature Communications, the study identified  19 genetic variants associated with endometriosis, and many of those variants are also associated with other serious health conditions such as ovarian cancer, cardiovascular disease and high cholesterol.

The findings may help researchers identifying some of the underlying causes for endometriosis, which remain unknown, according to the two lead researchers Professor Grant Montgomery, and Associate Professor Dale Nyholt of the University of Queensland in Brisbane, Australia.

“Although genes are not the only deciding factor for whether or not a woman will develop endometriosis, it’s important to identify genes increasing a woman’s risk so we can understand the facdtors causing the disease,” said Professor Montgomery.

Both genetics and environmental factors play a role in the disease, which is characterized by uterine tissue, called endometrium, developing outside of the uterus, often in the stomach, ovaries, fallopian tubes and ligaments around the reproductive organs. On top of sometimes excruciating pain, this can result in scarring and in infertility in up to half the women who have the condition.

For many women even getting a diagnosis of endometriosis can be a long and grueling process. A recent survey of women with the condition published in the journal Lancet found that their top priority is finding a better way to diagnose the condition. Also on the list were better treatments for managing the symptoms of the disease.

Researchers have long known that multiple genetic factors were involved, and this study helps provide new insight on the molecular basis for the condition. Whereas previous studies identified only eight genetic associations with endometriosis, researchers in this study were able to increase the power of their study by combining data in a “meta-analysis” from several different study cohorts to discover these 19 new variants.

In all, data from more than 200,000 women was used in the study, with about 40,000 of that being 23andMe customers who consented to research. The study also included data from 10 other international genome wide association studies and work from researchers at the Harvard Medical School, Biobank Japan, the Oxford Endometriosis study in the United Kingdom, data from the Queensland Institute of Medicinal Research in Brisbane Australia and data from the DNA testing company deCODE Genetics in Iceland.By increasing the size of the study, the researchers were able to tease out associations that couldn’t be seen before.

They were also able to garner more insight into the molecular mechanisms involved by looking at the functions and pathways of the genes and gene regions in which the variants are found. In this case the study found several variants in genes involved in sex hormone metabolism, specifically the genes GREB1, FN1, KDR, CCDC170, ESR1, SYNE1, and FSHB.

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