Table 1

Genome-wide association studies in Kawasaki disease (KD)

GeneLocusPopulationBiological significanceReferences
FCGR2A (encodes low-affinity immunoglobulin gamma Fc region receptor II-a)1q23European, AsianThe involvement of FCGR2A in susceptibility to KD highlights the importance of IgG receptors in the pathogenesis of this inflammatory disease and provides a biological basis for the use of intravenous immunoglobulin for treatment.37
ITPKC (inositol 1,4,5-trisphosphate 3-kinase C)19q23Japanese, AmericanITPKC acts as a negative regulator of T-cell activation through the Ca2+/NFAT signalling pathway, and the C allele may contribute to immune hyper-reactivity in KD. This finding provides new insights into the mechanisms of immune activation in KD and emphasises the importance of activated T cells in the pathogenesis of this vasculitis36
ABCC4 (ATP-binding cassette, subfamily C, member 4)13q32European, American, AustralianABCC4 is a multifunctional cyclic nucleotide transporter that stimulates the migratory capacity of dendritic cells and a mediator of prostaglandin efflux from human cells inhibited by non-steroidal anti-inflammatory medications such as aspirin.38
Intergenic region between FAM167A and BLK8p22-23JapaneseVariations in the FAM167ABLK region have been associated with several autoimmune diseases, such as rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis. BLK encodes B-lymphoid tyrosine kinase, a Src family tyrosine kinase downstream of the B-cell receptor. Mechanism in KD pathogenesis unknown.34
CD4020q12–q13.2Taiwanese, JapaneseCD40 L is expressed on the surface of CD4 T-cells and platelets, and engages with CD40 expressed on the surface of antigen-presenting cells or endothelial cells. Transduces signals related to cell activation or development. Elevated expression of CD40 L during acute-phase KD, and significantly higher expression in KD patients with CAA have been reported.34
  • CAA, coronary artery aneurysms; NFAT, nuclear factor of activated T cells.