Whole genome study reveals clues to solving the mystery behind Kawasaki disease
Kawasaki disease is an inflammatory condition in children that affects the mucus membranes, lymph nodes, walls of blood vessels, and the heart. Clinical signs include high fever, rash, and swollen hands and feet with skin peeling. Most importantly, the disease causes damage to the coronary arteries in a quarter of untreated children and may increase the risk of atherosclerosis in early adulthood. The cause of Kawasaki disease is unknown; an infectious etiology is suspected but not proven. There is no diagnostic test and current treatment fails to prevent coronary damage in at least 1 in 10 to 20 children. Kawasaki disease is fatal in approximately 1 in 1000 children.
This is the first genetic study of an infectious disease to examine the whole genome, rather than selected genes. The study shows that genes involved in cardiovascular function and inflammation may be particularly important and some seem to function together. The authors believe these findings could lead to new diagnostics and better treatment and may offer information about adult cardiovascular disease as well.
However, the findings do not yet prove that the new genes are functionally involved. Other genetic variants may be important, especially in different ethnic groups. The authors are now planning detailed studies of the function of these genes and larger collaborative studies including East Asian populations, who are at particular risk of Kawasaki disease, with 1 in 150 Japanese children affected.
Original publication: Burgner D, Davila S, Breunis WB, Ng SB, Li Y, et al.; "A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease."; PLoS Genet 2009, 5(1).
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Topic world Diagnostics
Diagnostics is at the heart of modern medicine and forms a crucial interface between research and patient care in the biotech and pharmaceutical industries. It not only enables early detection and monitoring of disease, but also plays a central role in individualized medicine by enabling targeted therapies based on an individual's genetic and molecular signature.
Topic world Diagnostics
Diagnostics is at the heart of modern medicine and forms a crucial interface between research and patient care in the biotech and pharmaceutical industries. It not only enables early detection and monitoring of disease, but also plays a central role in individualized medicine by enabling targeted therapies based on an individual's genetic and molecular signature.