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 2,000 years, traders used this 4,000-mile network linking the Far East with Europe to exchange goods, culture and, in the case of the Silk Road disease, genes. National Institutes of Health researchers and their Turkish and Japanese collaborators published their findings in the Jan. 6, 2013, advance online issue of Nature Genetics.
Named for the Turkish physician who described it in 1937, Behcet's (pronounced BET'-chets) disease is triggered by complex genetic and environmental factors, and causes inflammation of blood vessels in various parts of the body. Common symptoms include painful mouth and genital sores, and eye inflammation that can lead to blindness. In some cases, it can be life-threatening, affecting blood vessels in the brain, lungs, and other vital organs. About 1 in 250 people in Turkey have Behcet's disease; others with the disease are found largely in regions along the Silk Road.
Genetic factors are thought to play a role in susceptibility to Behcet's disease, with the human leukocyte antigen (HLA) B-51 gene region of the genome, accounting for about 20 percent of genetic risk for the disease. Researchers have been aware of the HLA B-51 association for about 40 years. Two years ago, the research team identified gene associations at two other specific chromosome locations, or loci.
"The current study represents an important advance because it dramatically broadens the spectrum of genetic loci associated with Behcet's disease," said Dan Kastner, M.D., Ph.D., scientific director of the Intramural Research Program at the National Human Genome Research Institute and senior author of the study. "These newly discovered genetic associations provide a link between Behcet's disease and other more
|Contact: Raymond MacDougall|
NIH/National Human Genome Research Institute