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 Tag it EASI – a new method for accurate protein analysis
20.06.2018 | Max-Planck-Institut für Biochemie

nachricht How to track and trace a protein: Nanosensors monitor intracellular deliveries
19.06.2018 | Universität Basel

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Temperature-controlled fiber-optic light source with liquid core

In a recent publication in the renowned journal Optica, scientists of Leibniz-Institute of Photonic Technology (Leibniz IPHT) in Jena showed that they can accurately control the optical properties of liquid-core fiber lasers and therefore their spectral band width by temperature and pressure tuning.

Already last year, the researchers provided experimental proof of a new dynamic of hybrid solitons– temporally and spectrally stationary light waves resulting...

Im Focus: Overdosing on Calcium

Nano crystals impact stem cell fate during bone formation

Scientists from the University of Freiburg and the University of Basel identified a master regulator for bone regeneration. Prasad Shastri, Professor of...

Im Focus: AchemAsia 2019 will take place in Shanghai

Moving into its fourth decade, AchemAsia is setting out for new horizons: The International Expo and Innovation Forum for Sustainable Chemical Production will take place from 21-23 May 2019 in Shanghai, China. With an updated event profile, the eleventh edition focusses on topics that are especially relevant for the Chinese process industry, putting a strong emphasis on sustainability and innovation.

Founded in 1989 as a spin-off of ACHEMA to cater to the needs of China’s then developing industry, AchemAsia has since grown into a platform where the latest...

Im Focus: First real-time test of Li-Fi utilization for the industrial Internet of Things

The BMBF-funded OWICELLS project was successfully completed with a final presentation at the BMW plant in Munich. The presentation demonstrated a Li-Fi communication with a mobile robot, while the robot carried out usual production processes (welding, moving and testing parts) in a 5x5m² production cell. The robust, optical wireless transmission is based on spatial diversity; in other words, data is sent and received simultaneously by several LEDs and several photodiodes. The system can transmit data at more than 100 Mbit/s and five milliseconds latency.

Modern production technologies in the automobile industry must become more flexible in order to fulfil individual customer requirements.

Im Focus: Sharp images with flexible fibers

An international team of scientists has discovered a new way to transfer image information through multimodal fibers with almost no distortion - even if the fiber is bent. The results of the study, to which scientist from the Leibniz-Institute of Photonic Technology Jena (Leibniz IPHT) contributed, were published on 6thJune in the highly-cited journal Physical Review Letters.

Endoscopes allow doctors to see into a patient’s body like through a keyhole. Typically, the images are transmitted via a bundle of several hundreds of optical...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Munich conference on asteroid detection, tracking and defense

13.06.2018 | Event News

2nd International Baltic Earth Conference in Denmark: “The Baltic Sea region in Transition”

08.06.2018 | Event News

ISEKI_Food 2018: Conference with Holistic View of Food Production

05.06.2018 | Event News

 
Latest News

Creating a new composite fuel for new-generation fast reactors

20.06.2018 | Materials Sciences

Game-changing finding pushes 3D-printing to the molecular limit

20.06.2018 | Materials Sciences

Could this material enable autonomous vehicles to come to market sooner?

20.06.2018 | Materials Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>