Scientists find gene linked with Kawasaki disease

Scientists have found that a specific gene is associated with an increased risk of contracting Kawasaki disease, an autoimmune disease that leads to inflamed blood vessels. The genome-wide association study involved collaborating scientists from around the world in an investigation led by the Genome Institute of Singapore, a unit of the country's Agency for Science, Technology and Research, the agency said on Wednesday. They found very strong evidence of increased risk of disease at a gene encoding a protein known as FCGR2A, after examining the genetic profiles of 405 children with Kawasaki disease and contrasted them with 6,252 healthy children in Europe, the United States and Australia. Genetic markers showing potential association with the disease were re-assessed and validated in more affected families and children from Asia. The world-wide investigation involving five separate consortia was initiated by Genome Institute of Singapore. The identified protein is well known to Kawasaki disease doctors because it is a receptor for intravenous immunoglobulin ( IVIG), which is used for the treatment of Kawasaki disease. Researchers have been unclear as to how or why the infusion of IVIG worked in treating the disease. The study highlights the importance of the receptors in the pathogenesis of the disease, thereby providing a biological basis for the use of IVIG for Kawasaki disease treatment. Martin Hibberd, co-lead author of the paper on the research project, said the difficult mystery of Kawasaki disease are now starting to be revealed. Khor Chiea Chuen, co-first author and research scientist at the institute, said he planned to extend the study to involve Singaporean patients in the near future. The Kawasaki disease affects mostly children, causing prolonged fever of usually more than five days. It is unresponsive to antibiotics and antipyrectics, such as paracetomol and aspirin. A very visible rash develops, and the child is in obvious discomfort, but it cannot be relieved by traditional means. Other conditions such as scarlet fever and measles can mimic it, thus delaying its diagnosis. Early diagnosis is important, so that IVIG can be administered straightaway. If IVIG is delayed, there is a significant risk of irreversible heart damage. The study was published on Sunday on the latest issue of Nature Genetics.