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Analysis of Bcl1, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma.

Introduction: Some variants of the glucocorticoid receptor (GR) gene have been found to alter glucocorticoid sensitivity and have been associated with worsen metabolic profiles. Objective: The aims of the present study were: 1) to examine whether the prevalence of N363S, ER22/23EK and Bcl1 variants was different in patients with adrenal incidentaloma (AI) with or without subclinical cushing syndrome (SCS) than in the general population and 2) whether the presence of these gene variants may be linked to metabolic or hormonal abnormalities in patients with adrenal incidentalomas or subclincal cushing syndrome. Methods: The study included 411 patients with adrenal incidentalomas and 189 control subjects. Metabolic and hormonal parameters and GR gene variants were determined. Results: When compared with control subjects, the carrier frequency for the three variants was similar ( N363S 5.4% vs 9.1%, Bcl1 54% vs 44.6%, ER22/23EK 4.4% vs 3.8%) and we have not observed any difference between patients with SCS and non secreting adenoma. In Bcl1 carriers we found lower mean ACTH levels (p=0.07) and an higher number of patients with elevated UFC values (p=0.04). N363S carriers showed hypertension (63.9% vs 86.4%, p=0.03) and hyperlipidemia (43.8% vs 63.6, p=0.05) more frequently than the remainders. Discussion: In our study the prevalence of the three variants is the same as reported in literature, without any differences related to the alteration of the HPA axis. We don’t found any correlation between ER22/23EK and Bcl1 variants and metabolic parameters, while hypertension and hyperlipidemia occur with a greater frequency in the N363S carriers. Conclusion: These results suggest that the ER22/23EK and Bcl1 variants seem not to have a key role on hormonal and metabolic profile of patients with AI. Only the analysis of N363S variant should be considered in patients with a worsen cardiovascular risk profile.

gene polymorphism; glucocorticoid receptor

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