Scientists Identify New Genetic Region Associated with Scleroderma
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
New research supported, in part, by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) has identified a new genetic link to systemic sclerosis (also known as systemic scleroderma) and confirmed three previously discovered links to the disease, which can cause thickening of the skin, narrowing of blood vessels and scarring of internal organs.
The study, which used a technique called genome-wide association to compare the genes of 2,296 people with systemic scleroderma to 5,171 without the disease, directed the scientists to a region of the genome not previously associated with the disease known as CD247. These findings, reported in the journal Nature Genetics, were confirmed during a second study involving 2,753 people with systemic scleroderma and 4,569 without the disease. The genetic material from the patients was collected through a collaboration of medical centers in the United States, Spain, Germany and the Netherlands.