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Genetic variants linked to increased risk of common gynecological disease
Date:12/12/2010

Research published today identifies two genetic variants that increase the risk of developing endometriosis, a common gynaecological disease. The study provides clues to the origin of this often very painful condition, which has a significant impact on the quality of life of sufferers.

Details of the research, carried out at the Wellcome Trust Centre for Human Genetics and the Nuffield Department of Obstetrics & Gynaecology, University of Oxford; the Queensland Institute of Medical Research, Australia, and Brigham; and Women's Hospital and Harvard Medical School, Boston, USA, are published in the journal Nature Genetics.

Endometriosis is a common gynaecological disease affecting an estimated 6 to 10 per cent of all women in their reproductive years an estimated 170 million women worldwide. It is characterised by the growth of cells similar to those lining the womb on organs in the pelvis, such as the ovaries and bowel. These deposits can cause inflammation and adhesions, and result in pelvic pain as well as infertility in some women. Why the deposits arise in the first place, and thrive outside the womb, is as yet largely unknown.

In some cases, endometriosis will only cause minor symptoms and go undiagnosed, but in more severe cases, debilitating symptoms can have a profound effect on the woman's life. The diagnosis can only be made reliably by looking into the pelvis with a laparoscope, which explains why it is common for years to pass before the diagnosis is made. Current treatments are limited to surgery and hormonal drugs that have numerous side-effects.

Now, researchers from the International Endogene Consortium have compared the genomes of over 5,500 women surgically diagnosed with the disease from the UK, Australia and the US, and compared them with almost 10,000 healthy volunteers. They have identified two new genetic variants that increase the risk of developing the disease, particularly moderate-severe sta
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Contact: Craig Brierley
c.brierley@wellcome.ac.uk
44-207-611-7329
Wellcome Trust
Source:Eurekalert

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