title: [Human genetic mutations and polymorphisms of adipocytokines relating to obesity].
abstract: Human gene mutations and polymorphisms of adipocytokines, adipocyte-derived bioactive molecules, have been reported to be implicated in the pathogenesis of obesity. Leptin and its receptor gene mutations are well-established in the development of severe obesity. Among early onset severe obese patients, the prevalence of various leptin-receptor gene mutations was about 3%. The polymorphisms of adiponectin, another important adipocytokine with anti-atherogenic and anti-diabetic properties, are reported to associate with the pathophysiology but not with the severity of obesity. Adipocytokine dysregulation due to lifestyle-mediated obesity would be common at this stage, although further study of adipocytokine mutation should be necessary.
authors.affiliation: Department of Metabolic Medicine, Graduate School of Medicine, Osaka University.
authors.forename: Aki
authors.initials: A
authors.lastname: Hiuge
authors.forename: Shinji
authors.initials: S
authors.lastname: Kihara
mesh_terms: D054392:Adipokines / Q000235:genetics*; D052242:Adiponectin / Q000235:genetics; D006801:Humans; D020738:Leptin / Q000235:genetics; D009765:Obesity / Q000235:genetics*; D011110:Polymorphism, Genetic; D054411:Receptors, Leptin / Q000235:genetics
chemical_list: D054392:Adipokines; D052242:Adiponectin; D020738:Leptin; D054411:Receptors, Leptin