Researchers uncover new findings on genetic risks of Behçet's disease

February 15, 2013, University of Michigan Health System

Researchers don't know the exact cause of Behçet's disease, a chronic condition that leads to oral and genital sores and serious complications such as blindness, but new research brings better understanding to what makes some people more susceptible to being affected.

In one of the most extensive of Behçet's disease, a University of Michigan-led, international team of researchers has identified novel gene variants in the and uncovered data that could apply to studies of other diseases. The results appear in the journal Nature Genetics.

"This disease is associated with significant complications and because it is not well understood, treatment options are limited," says lead author Amr Sawalha, M.D., associate professor of internal medicine in the division of rheumatology at the U-M Medical School.

"We were able to identify and localize robust factors associated with Behçet's disease in a way that will hopefully bring us a step closer to better understanding this devastating illness."

The UMHS research, a collaboration that includes researchers from Turkey, Italy, Germany and the Netherlands, identifies how a specific group of genes are linked to Behçet's disease. The disease can affect people from all ethnicities, but has an increased prevalence along the ancient "Silk Road" in East Asia, Turkey, and the Mediterranean and Middle Eastern countries.

The disorder causes in blood vessels throughout the body and affects many organs, including the eyes, brain, skin, joints and the digestive system. Some symptoms may include mouth and genital ulcers, eye inflammation and reduced vision, skin rashes and lesions, joint swelling, abdominal pain and diarrhea.

Behçet's disease may also cause inflammation in the brain, which could cause headaches, fever, poor balance or stroke. Inflammation in veins and large arteries could also lead to other complications, such as .

One of the major genetic risk factors of the disease is believed to be a specific form of a gene on chromosome 6 in the HLA region (an inherited group of genes known as human leukocyte antigen). The new study shows that contrary to the belief that genetic risk in this region is most strongly tied to a form of the gene HLA-B (called HLA-B*51) – there are actually at least four independent genetic risk regions within the HLA linked to the disease. and the risk previously attributed to the HLA-B*51 protein itself is explained by a outside the HLA-B gene. Researchers have long studied the phenomenon of why certain forms of HLA are associated with autoimmune and inflammatory disorders and the severity of those disorders.

"This HLA region has an incredibly significant role in many diseases. It's also one of the most complicated areas of the human genome, which is why it's so difficult to analyze," Sawalha says. "This is an extensive way to look at the HLA region that can be also applied to other diseases. We can now identify and localize the risks within this complex HLA region more accurately than ever before, which opens the door to further developments."

Explore further: Genetic mystery of Behcet's disease unfolds along the ancient Silk Road

More information: Nature Genetics, February, 2013, "Identification of multiple independent susceptibility loci in the HLA region in Behçet's disease," doi:10.1038/ng.2551.

Related Stories

Genetic mystery of Behcet's disease unfolds along the ancient Silk Road

January 6, 2013
Researchers have identified four new regions on the human genome associated with Behcet's disease, a painful and potentially dangerous condition found predominantly in people with ancestors along the Silk Road. For nearly ...

Researchers uncover gene's role in rheumatoid arthritis, findings pave way for new treatments

January 24, 2013
University of Michigan research sheds new light on why certain people are more likely to suffer from rheumatoid arthritis – paving the way to explore new treatments for both arthritis and other autoimmune diseases.

Study investigates genetic variants' role in increasing Parkinson's disease risk

October 6, 2012
Boston University School of Medicine (BUSM) investigators have led the first genome-wide evaluation of genetic variants associated with Parkinson's disease (PD). The study, which is published online in PLOS ONE, points to ...

Recommended for you

Discovery of the 'pioneer' that opens the genome

January 23, 2018
Our genome contains all the information necessary to form a complete human being. This information, encoded in the genome's DNA, stretches over one to two metres long but still manages to squeeze into a cell about 100 times ...

Researchers identify gene responsible for mesenchymal stem cells' stem-ness'

January 22, 2018
Many doctors, researchers and patients are eager to take advantage of the promise of stem cell therapies to heal damaged tissues and replace dysfunctional cells. Hundreds of ongoing clinical trials are currently delivering ...

Genes contribute to biological motion perception and its covariation with autistic traits

January 22, 2018
Humans can readily perceive and recognize the movements of a living creature, based solely on a few point-lights tracking the motion of the major joints. Such exquisite sensitivity to biological motion (BM) signals is essential ...

Peers' genes may help friends stay in school, new study finds

January 18, 2018
While there's scientific evidence to suggest that your genes have something to do with how far you'll go in school, new research by a team from Stanford and elsewhere says the DNA of your classmates also plays a role.

Two new breast cancer genes emerge from Lynch syndrome gene study

January 18, 2018
Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

A centuries-old math equation used to solve a modern-day genetics challenge

January 18, 2018
Researchers developed a new mathematical tool to validate and improve methods used by medical professionals to interpret results from clinical genetic tests. The work was published this month in Genetics in Medicine.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.