Mutation frequencies in the beta 3-adrenergic receptor gene were measured in 83 CAD patients and 107 controls (all Japanese nationals) and the mutation incidence in the two groups was compared. The relationship between characteristics of lipid and glucose metabolism and presence or absence of the mutation was examined in CAD patients. The frequency of this mutant allele in CAD patients was significantly higher than that of controls. The presence of this mutation was significantly associated with higher body mass index, but not with other plasma lipid and glucose levels in CAD patients. This mutation was associated with coronary heart disease and obesity but was not with glucose and lipid metabolism disorders in Japanese nationals.