ICEECE2012 Poster Presentations Adrenal cortex (113 abstracts)
Analysis of the glucocorticoid receptors polymorphism in patients with adrenal incidentaloma and patients with Cushing’s syndrome.
G. Reimondo 1 , D. Giachino 2 , I. Micossi 1 , P. Berchialla 3 , S. Varacalli 2 , B. Allasino 1 , A. Pia 1 , F. Laino 1 , G. Peraga 1 , P. Cosio 1 , C. Sciolla 1 , M. De Marchi 2 & M. Terzolo 1
1Medicina Interna 1 a indirizzo Endocrinologico – AOU San Luigi, Orbassano, Italy; 2Genetica Medica – AOU San Luigi, Orbassano, Italy; 3Statistica – AOU San Luigi, Orbassano, Italy.
The effects of glucocorticoids are mediated by the glucocorticoid receptors (GR) and some single nucleotide polymorphisms (SNPs) have been associated to enhanced sensitivity (N363S, BclI) or reduced sensitivity (ER22/23EK) to glucocorticoids.
Aim of the present study was: 1) to assess the frequency of N363S, BclI and ER22/23EK in 46 patients with Cushing’s syndrome (CS) and 73 patients with adrenal incidentaloma (AI) compared to 186 healthy subjects; 2) to evaluate a possible correlation between the different SNPs and patient phenotype.
In all patients we evaluated clinical and demographic parameters, urinary free cortisol (UFC) and cortisol after 1 mg dexamethasone suppression test (DST). DNA was extracted from peripheral blood leukocytes using PCR. The PCR product was digested with 1 U of TasI at 65 °C overnight, and the accuracy of genotyping was confirmed by sequencing analysis.
We did not observe any differences between the frequency of N363S, BclI and ER22/23EK in patients and controls. Although not statistically different, we observed a reduced frequency of BclI in patients with AI and cortisol >5 mcg/dl after DST. Moreover, 4 out 5 patients with AI carrying the N363S SNP had an overt metabolic syndrome despite normal UFC and cortisol levels after DST.
Our data suggest that the evaluated SNPs are not involved in the pathogenesis of CS or AI. In patients with CS, we did not observe any genotype/phenotype correlation, since the overt hypercortisolism likely masks any modulatory effect of the SNPs on clinical parameters. In AI patients, who present only a mild hypercortisolism, BclI may affect cortisol suppression after DST, while N363S may be associated to a worsen metabolic profile.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
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