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Endometriosis Health Center

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New Genes Linked to Endometriosis

Genetic Variants Affect Women's Risk of Developing Endometriosis, Researchers Say
WebMD Health News
Reviewed by Louise Chang, MD

Dec. 13, 2010 -- Women with one of two genetic variants may be more likely to develop endometriosis, according to a new study that may offer new clues about the cause of the mysterious condition.

Researchers say it's the first study to show a genetic link to the disorder that affects between 6% and 10% of women of childbearing age.

Endometriosis is the abnormal growth of cells similar to those found inside the uterus on other areas of the body, such as the ovaries and bowel. The growths can lead to inflammation, pelvic pain, painful menstrual periods, and infertility in some women.

"We've known for some time that endometriosis is heritable, but until now we have been unable to find any robust genetic variants that influence a woman's risk of developing the disease," researcher Krina Zondervan, a Wellcome Trust Research Career Development Fellow at the University of Oxford in England, says in a news release.

"Our study is a breakthrough because it provides the first strong evidence that variations in DNA make some women more likely to develop endometriosis," Zondervan says. "We now need to understand the effect of these variations on cells and molecules in the body."

New Endometriosis Genes Found

In the study, published in Nature Genetics, researchers compared the genes of 5,586 women with endometriosis to 9,331 women without endometriosis.

The results showed that women with two different genetic variants were more likely to have endometriosis.

The first was located on chromosome 7 and is thought to be involved in the development of the uterus and its lining. The second was on chromosome 1, which is involved in the development of the female reproductive tract.

Researchers say if further studies confirm these two genetic variants as key players in the development of endometriosis, it could lead to better ways to diagnose and treat the disease.

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