Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic variants linked to increased risk of common gynecological disease

13.12.2010
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 stages.

"Endometriosis can be a painful and distressing condition that affects a significant number of women in their reproductive years," explains Dr Krina Zondervan, a Wellcome Trust Research Career Development Fellow at the University of Oxford and the study's Principal Investigator. "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."

The first is a variant on chromosome 7 believed to be involved in regulating nearby genes, probably those involved in the development of the womb and its lining. The second variant was found on chromosome 1, close to the gene WNT4. This is important for hormone metabolism and the development of the female reproductive tract, especially the ovaries, making it an important biological candidate for involvement in endometriosis.

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

Dr Stephen Kennedy, Head of the Nuffield Department of Obstetrics & Gynaecology and joint senior author on the paper, adds: "We have great confidence that the results of this study will help towards developing less invasive methods of diagnosis and more effective treatments for endometriosis."

The study was funded by a grant from the Wellcome Trust as part of the Wellcome Trust Case Control Consortium 2, and builds on 15 years of collaborative work on the genetics of endometriosis between the research groups.

Craig Brierley | EurekAlert!
Further information:
http://www.wellcome.ac.uk

More articles from Life Sciences:

nachricht Symbiotic bacteria: from hitchhiker to beetle bodyguard
28.04.2017 | Johannes Gutenberg-Universität Mainz

nachricht Nose2Brain – Better Therapy for Multiple Sclerosis
28.04.2017 | Fraunhofer-Institut für Grenzflächen- und Bioverfahrenstechnik IGB

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Fighting drug resistant tuberculosis – InfectoGnostics meets MYCO-NET² partners in Peru

28.04.2017 | Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

 
Latest News

Wireless power can drive tiny electronic devices in the GI tract

28.04.2017 | Medical Engineering

Ice cave in Transylvania yields window into region's past

28.04.2017 | Earth Sciences

Nose2Brain – Better Therapy for Multiple Sclerosis

28.04.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>