Identification of Novel Kawasaki Disease Susceptibility Genes by Genome-Wide Association Studies

Abstract

Completion of the Human Genome Project has helped in identifying disease genes, particularly with regard to mapping high-density single nucleotide polymorphisms and development of high-throughput genotyping platforms, which have considerably advanced research on complex disorders. Genome-wide searches are now practical and led to identification of genetic variations within previously unexamined genes relevant to diseases. In a genome-wide linkage study, the author and colleagues discovered that ITPKC and CASP3 are common susceptibility genes for Kawasaki disease. This prompted examination of the Ca²⁺/NFAT pathway and a subsequent continuous series of newly identified Kawasaki disease susceptibility genes. The recent identification of the FCGR2A, BLK, CD40, and HLA class II gene regions in genome-wide association studies has shed new light on the pathogenesis of Kawasaki disease.