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

Jer-Yuarn Wu, Fuu-Jen Tsai, Yuan-Tsong Chen and colleagues report a genome-wide association study of Kawasaki disease. They show that common variants near BLK and CD40 influence susceptibility to this acute childhood vasculitis. 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.