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

February 15, 2013

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

A rogue gene is causing seizures in babies—here's how scientists wants to stop it

July 26, 2017
Two rare diseases caused by a malfunctioning gene that triggers seizures or involuntary movements in children as early as a few days old have left scientists searching for answers and better treatment options.

Scientists provide insight into genetic basis of neuropsychiatric disorders

July 21, 2017
A study by scientists at the Children's Medical Center Research Institute at UT Southwestern (CRI) is providing insight into the genetic basis of neuropsychiatric disorders. In this research, the first mouse model of a mutation ...

Scientists identify new way cells turn off genes

July 19, 2017
Cells have more than one trick up their sleeve for controlling certain genes that regulate fetal growth and development.

South Asian genomes could be boon for disease research, scientists say

July 18, 2017
The Indian subcontinent's massive population is nearing 1.5 billion according to recent accounts. But that population is far from monolithic; it's made up of nearly 5,000 well-defined sub-groups, making the region one of ...

Mutant yeast reveals details of the aberrant genomic machinery of children's high-grade gliomas

July 18, 2017
St. Jude Children's Research Hospital biologists have used engineered yeast cells to discover how a mutation that is frequently found in pediatric brain tumor high-grade glioma triggers a cascade of genomic malfunctions.

Late-breaking mutations may play an important role in autism

July 17, 2017
A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

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.