Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis

Nat Genet. 2012 Mar 25;44(5):522-5. doi: 10.1038/ng.2227.


To find new candidate loci predisposing individuals to Kawasaki disease, an acute vasculitis that affects children, we conducted a genome-wide association study in 622 individuals with Kawasaki disease (cases) and 1,107 controls in a Han Chinese population residing in Taiwan, with replication in an independent Han Chinese sample of 261 cases and 550 controls. We report two new loci, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10(-8)). Our findings may lead to a better understanding of the role of immune activation and inflammation in Kawasaki disease pathogenesis.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Genetic Loci*
  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study*
  • Humans
  • Mucocutaneous Lymph Node Syndrome / genetics*
  • Polymorphism, Single Nucleotide / genetics*
  • Taiwan


  • Genetic Markers