BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease

Object Although glucocorticoids are essential for health, several studies have shown that glucocorticoids replacement in Addison's disease might be involved in anthropometric and metabolic impairment, with increased cardiovascular risk, namely if conventional doses are used. As the effects of g...

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Bibliographic Details
Published in:Clinical endocrinology (Oxford) 2012-12, Vol.77 (6), p.863-870
Main Authors: Giordano, Roberta, Marzotti, Stefania, Berardelli, Rita, Karamouzis, Ioannis, Brozzetti, Annalisa, D'Angelo, Valentina, Mengozzi, Giulio, Mandrile, Giorgia, Giachino, Daniela, Migliaretti, Giuseppe, Bini, Vittorio, Falorni, Alberto, Ghigo, Ezio, Arvat, Emanuela
Format: Article
Language:English
Subjects:
Addison Disease - drug therapy
Addison Disease - genetics
Adult
Aged
Aged, 80 and over
Anthropometry
Autoimmune Diseases
DNA - blood
Drug Resistance - genetics
Dyslipidemias - genetics
Female
Gene Frequency
Genotype
Glucocorticoids - immunology
Glucocorticoids - therapeutic use
Glucose Intolerance - genetics
Humans
Male
Middle Aged
Obesity - genetics
Polymorphism, Genetic - genetics
Receptors, Glucocorticoid - genetics
Retrospective Studies
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Summary:Object Although glucocorticoids are essential for health, several studies have shown that glucocorticoids replacement in Addison's disease might be involved in anthropometric and metabolic impairment, with increased cardiovascular risk, namely if conventional doses are used. As the effects of glucocorticoids are mediated by the glucocorticoid receptor, encoded by NR3C1 gene, different polymorphisms in the NR3C1 gene have been linked to altered glucocorticoid sensitivity in general population as well as in patients with obesity or metabolic syndrome. Design We investigated the impact of glucocorticoid receptor gene polymorphisms, including the BclI, N363S and ER22/23EK variants, on anthropometric parameters (BMI and waist circumference), metabolic profile (HOMA, OGTT and serum lipids) and ACTH levels in 50 patients with Addison's disease (34 women and 16 men, age 20–82 year) under glucocorticoids replacement. Results Neither N363S nor ER22/23EK variants were significantly associated with anthropometric, metabolic or hormonal parameters, while patients carrying the homozygous BclI polymorphism GG (n = 4) showed higher (P 
ISSN:0300-0664
1365-2265
DOI:10.1111/j.1365-2265.2012.04439.x