Featured Research

from universities, journals, and other organizations

Genetic study sheds new light on auto-immune arthritis

Date:
July 10, 2011
Source:
University of Bristol
Summary:
Researchers are one step closer to understanding how an individual's genetic make-up predisposes them to Ankylosing Spondylitis (AS), a common auto-immune arthritis which causes pain and stiffness of the spine, and in serious cases, progressive fusion of the vertebrae and other affected joints.

Researchers are one step closer to understanding how an individual's genetic make-up predisposes them to Ankylosing Spondylitis (AS), a common auto-immune arthritis which causes pain and stiffness of the spine, and in serious cases, progressive fusion of the vertebrae and other affected joints.

The study is published in Nature Genetics.

The team of researchers from the Universities of Bristol, Queensland (Australia), Oxford, Texas and Toronto, used a technique called genome-wide association where millions of genetic markers are measured in thousands of people that have the disease and thousands of healthy individuals.

Markers which are more frequent in individuals with the disease are more likely to be involved in the condition.

Using this approach the investigators found an additional seven genes likely to be involved in the condition, bringing the total number of genes known to predispose to AS to thirteen. Many of the new genes are already known to be involved in inflammatory and immune processes, providing researchers with further clues about how the disease arises. Two of the new genes are also known to predispose to other auto-immune conditions including Crohn's disease (a form of inflammatory bowel disease) and Celiac disease (an auto-immune intestinal disease).

Researchers were also able to demonstrate an interaction between a genetic mutation called HLA-B27 and a mutation in a gene called ERAP1. Specifically, the ERAP1 mutation only predisposed to disease in those individuals who tested positive for the HLA-B27 mutation.

Dr David Evans from the University of Bristol said: "This finding is important in a number of ways. First of all it's one of the first convincing examples we have of one mutation influencing the effect of another mutation in the development of a relatively common disease. This is exciting because it implies that there may be other examples of this phenomenon in other common diseases that we don't know about yet.

"Second, the interaction itself tells us something very fundamental about how AS is caused. Prior to this study there were a number of competing theories about how the disease was caused. Our study suggests very strongly which one of these competing hypotheses is likely to be correct."

Finally, the researchers also identified a single genetic marker which could be used to assist in diagnosis of Ankylosing Spondylitis.

"AS is notoriously difficult to diagnose in its early stages which can lead to costly delays in its treatment," said Dr Evans. "Typically diagnosis consists of a combination of X-rays, patient symptoms and expensive immunological assays in the laboratory. This genetic marker could easily take the place of an expensive immunological assay. What would normally cost 40-50 could be done easily for a fraction of the price."


Story Source:

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


Journal Reference:

  1. The Australo-Anglo-American Spondyloarthritis Consortium (TASC), the Wellcome Trust Case Control Consortium 2 (WTCCC2) et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nature Genetics, 2011; DOI: 10.1038/ng.873

Cite This Page:

University of Bristol. "Genetic study sheds new light on auto-immune arthritis." ScienceDaily. ScienceDaily, 10 July 2011. <www.sciencedaily.com/releases/2011/07/110710132821.htm>.
University of Bristol. (2011, July 10). Genetic study sheds new light on auto-immune arthritis. ScienceDaily. Retrieved July 31, 2014 from www.sciencedaily.com/releases/2011/07/110710132821.htm
University of Bristol. "Genetic study sheds new light on auto-immune arthritis." ScienceDaily. www.sciencedaily.com/releases/2011/07/110710132821.htm (accessed July 31, 2014).

Share This




More Health & Medicine News

Thursday, July 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

House Republicans Vote to Sue Obama Over Healthcare Law

House Republicans Vote to Sue Obama Over Healthcare Law

Reuters - US Online Video (July 31, 2014) The Republican-led House of Representatives votes to sue President Obama, accusing him of overstepping his executive authority in making changes to the Affordable Care Act. Mana Rabiee reports. Video provided by Reuters
Powered by NewsLook.com
Despite Health Questions, E-Cigs Are Beneficial: Study

Despite Health Questions, E-Cigs Are Beneficial: Study

Newsy (July 31, 2014) Citing 81 previous studies, new research out of London suggests the benefits of smoking e-cigarettes instead of regular ones outweighs the risks. Video provided by Newsy
Powered by NewsLook.com
Dangerous Bacteria Kills One in Florida

Dangerous Bacteria Kills One in Florida

AP (July 31, 2014) Sarasota County, Florida health officials have issued a warning against eating raw oysters and exposing open wounds to coastal and inland waters after a dangerous bacteria killed one person and made another sick. (July 31) Video provided by AP
Powered by NewsLook.com
Health Insurers' Profits Slide

Health Insurers' Profits Slide

Reuters - Business Video Online (July 30, 2014) Obamacare-related costs were said to be behind the profit plunge at Wellpoint and Humana, but Wellpoint sees the new exchanges boosting its earnings for the full year. Fred Katayama reports. Video provided by Reuters
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:

More Coverage


Unlocking the Genetics and Biology of Joint Disorder Ankylosing Spondylitis

July 10, 2011 A study involving over 5,000 people living with the joint disorder ankylosing spondylitis has identified a series of genetic variants associated with increased susceptibility to the condition as well ... read more
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