ECE2014 Poster Presentations Adrenal cortex (56 abstracts)
Analysis of BclI, N363S and ER22/23EK polymorphism of the glucocorticoid receptor gene in a large series of patients with adrenal incidentaloma
Giuseppe Reimondo 1 , Marcella Coletta 1 , Daniela Giachino 2 , Iacopo Chiodini 3 , Darko Kastelan 4 , Valentina Morelli 3 , Salvatore Cannavò 5 , Alessandra Cuccurullo 2 , Paolo Beck-Peccoz 3 , Mario De Marchi 2 & Massimo Terzolo 1
1Dipartimento di Scienze Cliniche e Biologiche, Medicina Interna 1, AOU San Luigi, Università di Torino, Orbassano, Italy; 2Dipartimento di Scienze Cliniche e Biologiche, Genetica Medica, AOU San Luigi, Università di Torino, Orbassano, Italy; 3Endocrinologia e Diabetologia, Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, Milano, Italy; 4Department of Endocrinology, University Hospital, Zagreb, Croatia; 5Endocrinologia, AOU Policlinico G. Martino, Messina, Italy.
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: i) to examine whether the prevalence of N363S, ER22/23EK and BclI variants was different in patients with adrenal incidentaloma (AI) and/or subclinical Cushing’s syndrome (SCS) than control subjects and ii) whether the presence of these gene variants may be linked to metabolic or hormonal abnormalities in patients with adrenal incidentalomas or subclincal Cushing’s syndrome.
Methods: The study included 411 patients with adrenal incidentalomas and 189 control subjects. Metabolic and hormonal parameters and GR gene variants (on genomic DNA by pyrosequencing assays) were determined.
Results: When compared with control subjects, the carrier frequency for the three variants was similar (N363S 5.4 vs 9.1%, BclI 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 a multiple regression analysis in patients with DST <1.8 μg/dl the N363S variant seems to be an independent predictor of hypertension (P=0.015).
Conclusion: We have not found any difference in the prevalence of the evaluated SNPs between patients and controls. The ER22/23EK and BclI variants don’t seem to have any influence on hormonal secretion and clinical presentation. N363S could influence blood pressure levels. However, the effect seems to be more evident in patients with normal cortisol secretion, while it is less apparent in subjects with an autonomous cortisol secretion. It should be hypothesized that cortisol secretion outweighs the effect of GC receptor sensitivity on clinical phenotype.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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