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New genetic risks of Behçet’s disease discovered

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Genetic Risks of Behçet’s disease

Researchers at the University of Michigan in collaboration with an international team of scientists have made new discoveries about Behcet’s disease, or Silk Road disease, a rare autoimmune disorder characterized by mucosal ulceration and visual loss. The study, which was published in the journal Nature Genetics, highlights genetic risk factors involved in the onset of this disease. Lead author Amr Sawalha, MD, associate professor of internal medicine in the Division of Rheumatology at the UM Medical School, said Behcet’s disease is associated with many complications and because the disease pathogenesis is not clearly understood, treatment is limited. Dr. Sawalha says in the study were found many genetic factors associated with Behcet’s disease and they hope that these findings will help them discover a more effective treatment of disorder.

Behcet’s Disease

Behcet’s disease can affect all ethnic groups but is most common in East Asia, Turkey, and the Mediterranean and Middle Eastern countries. Behcet’s disease is a vasculitis that is an inflammation of the blood vessels throughout the body and this leads to damage practically to any organ: the skin, eyes, digestive system, brain, joints etc. There are affectted the skin, the eye, the gastrointestinal system, the pulmonary system, the musculoskeletal system, the nervous system and the heart. Behcet’s disease patients have painful  mucocutaneous ulcers that can be located both oral and genital. Eye disease refers to different types of uveitis (anterior uveitis, posterior uveitis, etc.) that usually occurs early in the disease and can lead to vision loss due to optic nerve atrophy.

Other symptoms are abdominal pain, diarrhea, nausea, vomiting, pain, hemoptysis, etc.. Because of damage to cerebral blood vessels, symptoms like headaches, confusion, seizures may appear. Treatment is similar to other autoimmune diseases as it is based on corticosteroids and immunosuppressants ( azathioprine, ciclosporin), interferon, anti-TNF therapy etc.

So far studies have shown that in this disease is involved a specific form of a gene on chromosome 6 in the HLA region. The study of the University of Michigan researchers shows that there are at least four independent genetic risk within the HLA region involved in Behcet disease. This finding contradicts the previous research showing that a major genetic risk factor is represented by one form of the gene HLA-B, called HLA-B *51. Sawalha explained that HLA region plays an important role in many diseases. He added that this region is also one of the most complex regions of the genome and is therefore difficult to analyze.