Role of glucocorticoid receptor polymorphism in adrenal incidentalomas

Valentina Morelli, Francesca Donadio, Cristina Eller-Vainicher, Valentina Cirello, Luca Olgiati, Chiara Savoca, Elisa Cairoli, Antonio Stefano Salcuni, Paolo Beck-Peccoz, Iacopo Chiodini

Research output: Contribution to journalArticlepeer-review


Background Adrenal incidentalomas (AI) have been associated with and an increased prevalence of metabolic and bone complications. The N363S and BclI polymorphisms of the glucocorticoid receptor (GR) have been associated with an increased sensitivity to glucocorticoid (GC). This observational study aims to evaluate whether BclI and N363S polymorphisms play a role in the development of complications in AI. Materials and methods We enrolled 100 patients with AI (66 F; 34M). The presence of diabetes, arterial hypertension (AH), dyslipidaemia, osteoporosis and vertebral fracture (Fx), waist circumference and the Body Mass Index (BMI) were assessed. DNA samples were genotyped. Patients with wild-type BclI, wild-type N363S and heterozygous BclI polymorphism were classified as carriers of haplotype 1 (H1; n = 86), patients with homozygous BclI and heterozygous N363S polymorphism of GR of haplotype 2 (H2; n = 14). Results We found no clinical or biochemical differences between haplotype 1 and 2 groups, but a higher prevalence of the simultaneous presence of Fx plus AH in H2 patients (H2 n = 7, H1 n = 16, P = 0·01). Logistic regression analysis showed that the presence of Fx and of AH and the combination of the presence of Fx plus AH were associated with the H2 genotype regardless of the degree of cortisol secretion, age, BMI and BMD (OR 4·88, 95%CI 1·47- 18·40, P = 0·05; OR 8·25, 95%CI 0·98-69·52, P = 0·05; OR 7·25, 95%CI 1·57-35·78, P = 0·011; respectively). Conclusions In AI patients, the presence of the haplotype 2 of BclI and N363S is associated with the presence of AH, Fx and with the combination of Fx and AH.

Original languageEnglish
Pages (from-to)803-811
Number of pages9
JournalEuropean Journal of Clinical Investigation
Issue number9
Publication statusPublished - Sep 2010


  • Adrenal incidentaloma
  • glucocorticoid receptor gene
  • subclinical hypercortisolism

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Biochemistry
  • Biochemistry


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