Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas

The Journal of Clinical Endocrinology and Metabolism
Judit MajnikKaroly Racz

Abstract

Some variants of the glucocorticoid receptor (GR) gene have been found to alter glucocorticoid sensitivity and have been associated with altered metabolic profiles. The objective of the study was to examine whether N363S and ER22/23K variants of the GR gene may be associated with the development of adrenal incidentalomas and whether these variants may contribute to metabolic abnormalities frequently present in these patients. The study included 99 patients with unilateral and 44 patients with bilateral adrenal incidentalomas, 102 population-matched control subjects, and 100 patients with type 2 diabetes mellitus. Metabolic and hormonal parameters and GR gene variants were determined. When compared with control subjects, the carrier frequency for the N363S variant was markedly and significantly higher in patients with bilateral (7.8 vs. 20.5%, P < 0.05) but not in those with unilateral incidentalomas (7.1%) or in patients with type 2 diabetes (13.0%). Type 2 diabetes occurred more frequently in patients with bilateral, compared with those with unilateral incidentalomas (40.9 vs. 22.2%, P < 0.05). In patients with bilateral incidentalomas, a significant association of the N363S variant with impaired glucose homeostasis but not wi...Continue Reading

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Citations

Nov 22, 2012·European Journal of Endocrinology·V MorelliI Chiodini
Mar 11, 2011·Annals of the New York Academy of Sciences·Pierre MormedeMarie-Pierre Moisan
Jun 30, 2010·European Journal of Clinical Investigation·Valentina MorelliIacopo Chiodini
Jul 12, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·George BriassoulisConstantine A Stratakis
Jun 18, 2014·Endocrine Reviews·Sofie VandevyverClaude Libert
Jan 11, 2017·Orphanet Journal of Rare Diseases·Zsuzsanna ZotterHenriette Farkas
Mar 5, 2021·Endocrine Journal·Agena SuzukiMasayoshi Shichiri

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