Working with an international coalition of researchers, Oklahoma Medical Research Foundation scientist Amr Sawalha, M.D., discovered five genes that could be the cause of Behçet’s disease, a rare and deadly illness.
The new finding could help scientists to better understand the disease and lead to a genetic test to diagnose and potentially provide treatments for the disease.
In a study published this week in the scientific journal Arthritis Research and Therapy, the team of scientists used a genome-wide association study to find and confirm five genetic variations linked to Behçet’s disease. The condition affects the immune system, causing oral and genital ulcers, and it can lead to blindness, blood clots, arterial aneurysms and brain inflammation.
“This is the first genome-wide association study of Behçet’s disease,” said Sawalha, who is an assistant member of the Arthritis and Immunology Research Program at OMRF. He also serves as an assistant professor of medicine at the University of Oklahoma Health Sciences Center and a staff physician with the Veteran’s Administration Hospital in Oklahoma City. “We found five novel susceptibility genes for the disease, including one gene whose function was unknown and which we now call Behçet’s Disease Associated Gene 1 (BDAG1)”.
Currently, there is no effective treatment for the disease. By isolating and identifying these genes, there’s a chance researchers can build on these discoveries to find effective therapeutics for the disease.
“The main treatments used now are immunosuppressants, drugs that weaken the immune system to control chronic inflammation in Behçet’s patients. But these drugs can have severe side effects and often aren’t successful,” said Sawalha, who treats patients with Behçet’s disease. “In some severe cases, those who have inflammatory eye disease can go blind, even with treatment.”
According to the American Behçet’s Disease Association, the disease may occur in 7 of every 100,000 Americans—approximately 2,300 people in the U.S.. Behçet’s is more prevalent in the Mediterranean and East Asia, which is why Sawalha is working to grow an international database of patients suffering from the illness.
“Because the disease is so rare, our sample size in this genetic screen was small,” he said. “We used samples from 152 patients and 172 healthy, matched controls. With a larger sample, we could find even more and rarer genetic variations for the disease.”
Sawalha worked with researchers from Istanbul University and Marmara University in Turkey on the study. The research was supported by the National Center for Research Resources and the National Institute of Allergy and Infectious Diseases at the National Institutes of Health, the Oklahoma Medical Research Foundation, the University of Oklahoma College of Medicine and the U.S. Department of Veterans Affairs.