Featured Research

from universities, journals, and other organizations

Lupus Gene Finding Prompts Call For More DNA Samples

Date:
December 3, 2007
Source:
Wellcome Trust
Summary:
Wellcome Trust researchers have identified a key gene involved in the disease lupus, which affects around 50,000 people in the UK, mostly women. The lead researcher behind the study has called for more patients to volunteer DNA samples to enable them to further study the underlying causes of the disease.

Wellcome Trust researchers have identified a key gene involved in the disease Lupus, which affects around 50,000 people in the UK, mostly women. The lead researcher behind the study has called for more patients to volunteer DNA samples to enable them to further study the underlying causes of the disease.

Lupus -- or Systemic Lupus Erythematosus (SLE) -- is an autoimmune disease which frequently causes skin rash, joint pains and malaise, but can also lead to inflammation of the kidneys and other internal organs. The risk of death in SLE is increased fivefold over that of the general population. However, because the symptoms are often non-specific, diagnosing the condition can be difficult. There is currently no cure for the disease, which can be triggered by viral infections, sunlight, trauma or stress, as well as puberty and childbirth.

In research published online today in the journal Nature Genetics, Professor Tim Vyse from Imperial College London, and colleagues in the US and Canada, have identified a new genetic variant, OX40L, which increases the risk of developing Lupus. The variant, which is carried by one in six people in the UK, increases the risk of developing the disease by 50% per copy.

"Lupus can be a very serious condition, but because its symptoms are often similar to those of other illnesses, it can be difficult and take time to diagnose," says Professor Vyse, a Wellcome Trust Senior Fellow from Imperial College. "Although it appears to have a number of environmental triggers, we are now beginning to get a clearer picture of the role that genetics also plays in the disease."

OX40L is a gene that is important in several different types of cells in the immune system. The work, carried out by members of Prof Vyse's laboratory, shows that the genetic variants in the OX40L gene that amplify the risk of lupus do so by increasing the amount of OX40L present on the surface of lymphocytes, which are key components of the immune system. They are currently studying exactly how this increases the risk of SLE.

"As well as causing problems with diagnosis, Lupus's many symptoms make it difficult to work out which are key to the disease," he says. "Identifying a specific gene will enable us to see at a molecular level what is behind Lupus and develop treatments targeted at inhibiting or blocking the action of those genes."

Prof Vyse's group and other scientists have previously discovered two other genes implicated in Lupus. IRF5 is a gene involved in regulating interferons, of which there appears to be an overabundance in Lupus. Interferons are natural proteins produced by the cells of the immune system in response to challenges by pathogens such as viruses, bacteria and tumour cells. The role of the second of the previously-discovered genes, FCGR3B, in Lupus is unclear.

Professor Vyse is very grateful to everyone who has provided DNA samples for these studies, but stresses the importance of more DNA samples from volunteers and calls for more patients to provide samples. The OX40L gene was identified by studying approximately 1.400 people with Lupus, and other members of their families in the UK and the US.

"Without DNA samples from people with Lupus, we would be unable to study the disease," he says. "Despite the disease being relatively common, DNA samples are in short supply. I would encourage patients to discuss with their GP or consultant about providing a blood sample to help further our understanding."


Story Source:

The above story is based on materials provided by Wellcome Trust. Note: Materials may be edited for content and length.


Cite This Page:

Wellcome Trust. "Lupus Gene Finding Prompts Call For More DNA Samples." ScienceDaily. ScienceDaily, 3 December 2007. <www.sciencedaily.com/releases/2007/12/071202155309.htm>.
Wellcome Trust. (2007, December 3). Lupus Gene Finding Prompts Call For More DNA Samples. ScienceDaily. Retrieved September 17, 2014 from www.sciencedaily.com/releases/2007/12/071202155309.htm
Wellcome Trust. "Lupus Gene Finding Prompts Call For More DNA Samples." ScienceDaily. www.sciencedaily.com/releases/2007/12/071202155309.htm (accessed September 17, 2014).

Share This



More Health & Medicine News

Wednesday, September 17, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Obesity Rates Steady Even As Americans' Waistlines Expand

Obesity Rates Steady Even As Americans' Waistlines Expand

Newsy (Sep. 17, 2014) Researchers are puzzled as to why obesity rates remain relatively stable as average waistlines continue to expand. Video provided by Newsy
Powered by NewsLook.com
President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com
Obama Orders Military Response to Ebola

Obama Orders Military Response to Ebola

AP (Sep. 16, 2014) Calling the Ebola outbreak in West Africa a potential threat to global security, President Barack Obama is ordering 3,000 U.S. military personnel to the stricken region amid worries that the outbreak is spiraling out of control. (Sept. 16) Video provided by AP
Powered by NewsLook.com
UN: 20,000 Could Be Infected With Ebola by Year End

UN: 20,000 Could Be Infected With Ebola by Year End

AFP (Sep. 16, 2014) Nearly $1.0 billion dollars is needed to fight the Ebola outbreak raging in west Africa, the United Nations say, warning that 20,000 could be infected by year end. Duration: 00:40 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins