Genetics of the metabolic syndrome.
The clustering of cardiovascular risk factors such as abdominal obesity, hypertension, dyslipidaemia and glucose intolerance in the same persons has been called the metabolic or insulin-resistance syndrome. In 1998 WHO proposed a unifying definition for the syndrome and chose to call it the metabolic syndrome rather than the insulin-resistance syndrome. Although insulin resistance has been considered as a common denominator for the different components of the syndrome, there is still debate as to whether it is pathogenically involved in all of the different components of the syndrome. Clustering of the syndrome in families suggests a genetic component. It is plausible that so-called thrifty genes, which have ensured optimal storage of energy during periods of fasting, could contribute to the phenotype of the metabolic syndrome. Common variants in a number of candidate genes influencing fat and glucose metabolism can probably, together with environmental triggers, increase susceptibility to the syndrome. Among these, the genes for beta 3-adrenergic receptor, hormone-sensitive lipase, lipoprotein lipase, IRS-1, PC-1, skeletal muscle glycogen synthase, etc. appear to increase the risk of the metabolic syndrome. In addition, novel genes may be identified by genome-wide searches.
Groop
L
L
Department of Endocrinology, University Hospital MAS, Lund University, Malmö, Sweden. leif.groop@endo.mas.lu.se
D002352:Carrier Proteins / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006006:Glycogen Synthase / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007333:Insulin Resistance / Q000235:genetics*; D020738:Leptin / Q000235:genetics; D008297:Male; D009765:Obesity; D011943:Receptors, Adrenergic, beta / Q000235:genetics; D011956:Receptors, Cell Surface; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D054411:Receptors, Leptin; D014157:Transcription Factors / Q000235:genetics
D002352:Carrier Proteins; D020738:Leptin; D011943:Receptors, Adrenergic, beta; D011956:Receptors, Cell Surface; D018160:Receptors, Cytoplasmic and Nuclear; D054411:Receptors, Leptin; D014157:Transcription Factors; D006006:Glycogen Synthase