Whole genome study reveals clues to solving the mystery behind Kawasaki disease

A study looking at the entire human genome has identified new genes that appear to be involved in making some children more susceptible to Kawasaki disease, according to a new international study published January 9 in the open-access journal PLoS Genetics. The research team, from The University of Western Australia, the Genome Institute of Singapore, Emma Children's Hospital, The Netherlands, Imperial College London, UK and the University of California San Diego, USA studied naturally occurring genetic variation in almost 900 cases of Kawasaki disease from these countries.

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.

PLEASE ADD THIS LINK TO THE PUBLISHED ARTICLE IN ONLINE VERSIONS OF YOUR REPORT: http://dx.plos.org/10.1371/journal.pgen.1000319 (link will go live on Friday, January 9)

CITATION: Burgner D, Davila S, Breunis WB, Ng SB, Li Y, et al. (2009) A Genome-Wide Association Study Identifies Novel and Functionally Related Susceptibility Loci for Kawasaki Disease. PLoS Genet 5(1): e1000319. doi:10.1371/journal.pgen.1000319

CONTACT:

AUSTRALIA:

Janine MacDonald (The University of Western Australia Press Officer janine.macdonald@uwa.edu.au)
Associate Professor David Burgner (co-lead researcher, School of Paediatrics and Child Health, UWA) dburgner@meddent.uwa.edu.au (unavailable 27th Dec-8th Jan) tel: + 618 (0)404950357

SINGAPORE:

Winnie Lim (Genome Institute of Singapore, Corporate Communications limcp2@gis.a-star.edu.sg)
Dr. Martin Hibberd (researcher, Infectious Diseases, Genome Institute of Singapore hibberdml@gis.a-star.edu.sg

THE NETHERLANDS:

Edith Gerritsma (Academic Medical Center (AMC), University of Amsterdam, Press Officer, wetenschapsvoorlichting@amc.nl).
Prof Taco Kuijpers (researcher, Emma Children's Hospital, AMC, University of Amsterdam) t.w.kuijpers@amc.uva.nl (unavailable 28th Dec-4th Jan); telephone: +31-20-566 2727

UNITED KINGDOM:

Lucy Goodchild (Imperial College London Press Officer lucy.goodchild@imperial.ac.uk) Prof Michael Levin (researcher, Department of Paediatrics, Imperial College London) m.levin@imperial.ac.uk; telephone: +44 (0)20 7594 3990

UNITED STATES:

Kim Edwards (Media Relations UCSD School of Medicine) kedwards@ucsd.edu
Jane C. Burns (researcher, Rady Children's Hospital) jcburns@ucsd.edu

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