A new study published in the journal, Nature Genetics, has shown that women who have one of the two genetic variants may have increased risk of developing endometriosis. This offers new insight into the development of this condition, which affects about 6% to 10% of women. According to the researchers, this study is the first of its kind to show a link between genes and endometriosis.
Endometriosis is a condition characterized by the growth of cells, similar to that found in the uterus, in other areas of the body like the ovaries and the bowel. This abnormal growth may lead to inflammation, pelvic pain, painful menstrual periods and infertility in some women. “Although it was known that endometriosis is heritable, it was not able to pinpoint on the genetic variants that may lead to this condition," says researcher Krina Zondervan, a Wellcome Trust Research Career Development Fellow at the University of Oxford in England.
“The major breakthrough of the study was that it was able to provide solid proof that DNA variations may make some women more susceptible to develop endometriosis," claims Zondervan. “Now the effort should be focused on the effects of these genes on cells and molecules in the body”, adds Zondervan.
In this study, researchers compared the genes of 5,586 women having endometriosis with that of 9,331 women who did not have endometriosis. The analysis showed that women who had one of the two genetic variants had more chances of having endometriosis. One of the genes was located on chromosome 7 and is thought to be important in the development of uterine lining. The second gene was located on chromosome 1 and is thought to be involved in the development of reproductive tract.
If more studies confirm the role of these genetic variants in the development of endometriosis, it may lead to better ways of diagnosis and treatment of the condition, say researchers.