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Genetic Variation Linked to Kawasaki Disease Identified
December 17, 2007 at 5:30 PM
Child Health News
The researchers from Japans RIKEN SNP Research Centre along with a team at the University of California, San Diego (UCSD), discovered a genetic variation that influences immune activation and the response to standard treatment. They also found that it involves a risk of developing in blood clots and heart attack.
The study led by Yoshi Onouchi, M.D., Ph.D., SNP Research Center, RIKEN, Yokohama, Japan, studied DNA from hundreds of American children and their parents.
The findings identified a region on chromosome 19 linked with the disease. In particular, a series of variants across four genes in the region emerged more frequently in individuals with the disease than those in the healthy control group.
This was a wonderful collaboration. Dr. Onouchi used our DNA to make this observation. Now we are building on that observation, said Jane Burns co-author, M.D., professor and chief, Division of Allergy, Immunology, and Rheumatology, UCSD Department of Pediatrics.
The researchers focused on one of these genes called ITPKC, which came out as the most likely candidate.
The gene lies in a pathway that affects the activation of T cells, one arm of the bodys immune response system.
The authors revealed that one of the risk variants diminishes the levels of ITPKC, which lead to over-activation of T cells.
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