LACK OF ASSOCIATION BETWEEN 5 POLYMORPHISMS IN THE HUMAN GLUCOCORTICOID RECEPTOR GENE AND GLUCOCORTICOID RESISTANCE

Glucocorticoid resistance due to mutations in the gene for the glucoco rticoid receptor has been suggested to be more common than is thought at present, owing to the relative mildness of its symptoms and the dif ficulty of its diagnosis. To investigate the prevalence of mutations i n the glucocorticoid receptor gene responsible for relative insensitiv ity to glucocorticoids, we carried out polymerase chain reaction/singl e-strand conformation analysis of the glucocorticoid receptor gene in a group of 20, otherwise healthy, persons with a reduced response in a dexamethasone suppression test and in 20 controls. We did not find mu tations or polymorphisms associated with a reduced sensitivity to gluc ocorticoids. However, we identified five novel polymorphisms in the ge ne for the human glucocorticoid receptor, which may be useful in analy zing whether loss of (part of) the glucocorticoid receptor gene plays a role in glucocorticoid-resistant malignancies. Although relative res istance to glucocorticoids seems to be rather frequent in otherwise he althy persons, it is not usually associated with mutations or polymorp hisms in the glucocorticoid receptor gene.