The glucocorticoid receptor gene and its association to metabolic syndrome.
In recent decades, there has been an increasing interest in the role of endogenous glucocorticoids such as cortisol in the pathogenesis of metabolic syndrome. Studies in humans have suggested a positive association between obesity, hypertension, and insulin resistance, with alleles at the glucocorticoid receptor (GR) gene. For instance, the BclI polymorphism within the intron upstream of GR exon 2 has been associated with cardiovascular risk factors such as visceral obesity, hypertension, insulin resistance, and elevated cortisol concentrations. However, the location of the BclI polymorphism is not known, and the variant has so far not been compared with the wild-type receptor for its ability to be activated by glucocorticoids. Although several other mutations in the GR gene have been postulated as being relevant to the progression to type 2 diabetes and cardiovascular diseases, conflicting results makes it difficult to determine exactly what effect these GR variations have on metabolic syndrome incidence and progression. Further studies focusing on the most compelling GR mutations might offer a better understanding of metabolic syndrome pathogenesis and progression, aiding in the development of more effective treatments for this condition.
Rosmond
Roland
R
Department of Clinical Chemistry, Sahlgrenska University Hospital, Göteborg, Sweden. rolandrosmond@hotmail.com
D000483:Alleles; D005260:Female; D005938:Glucocorticoids / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics / Q000502:physiology; D009765:Obesity / Q000235:genetics / Q000378:metabolism; D011965:Receptors, Glucocorticoid / Q000235:genetics* / Q000378:metabolism
D005938:Glucocorticoids; D011965:Receptors, Glucocorticoid