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Polymorphism Linked to Aneurysms in Kawasaki's

Single nucleotide polymorphism found in ITPKC gene, thought to play role in T-cell receptor signaling

THURSDAY, Jan. 3 (HealthDay News) -- Researchers identified a single nucleotide polymorphism (SNP) associated with Kawasaki disease susceptibility and outcome, a finding that highlights the importance of activated T cells in the disease process. The research was published in the January issue of Nature Genetics.

Yoshihiro Onouchi, M.D., Ph.D., of RIKEN in Yokohama, Kanagawa, Japan, and colleagues studied a number of groups with Kawasaki disease and healthy controls to narrow their list of likely SNPs down to four. They theorized that itpkc_3 in the ITPKC gene on chromosome 19q13.2 was the most likely candidate.

The investigators found that in 78 affected Japanese sibling pairs, 40 pairs shared more than one allele near itpkc_3, and the itpkc_3 C allele was over-represented compared to controls (odds ratio 2.46). The allele was also associated with an increased risk of developing coronary artery lesions.

"The association of the itpkc_3 C allele with Kawasaki disease may have direct clinical implications. In both Japan and the United States, approximately 10 to 20 percent of individuals with Kawasaki disease are resistant to IVIG therapy, and these individuals are at highest risk of developing coronary artery lesions. Although the sample size was limited, the C allele also conferred an increased risk of IVIG resistance in the U.S. cohort for which information regarding IVIG response was available," the authors write. "Identifying a genetic signature for the subgroup of IVIG-resistant individuals would permit the use of more intensified therapy (for example, anti-cytokine therapy or plasmapheresis) to prevent the development of coronary artery lesions," they conclude.

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