Kawasaki disease (KD) is a leading cause of acquired heart disease in children in developed countries. Although it has been thought that symptoms of KD are related to hyperactivation of the immune system triggered by infection with some microorganisms, the etiological agent still remains unknown. In this situation, genetic factors underlying the disease pathogenesis, which have been suggested by epidemiological findings, are expected to be clues to the enigma. Recently, susceptibility genes for KD have been identified in succession by studies with a genome-wide approach. Recent advances in genetic studies for KD will be presented.