Clinical and biochemical impact of BCL1 polymorphic genotype of the glucocorticoid receptor gene in patients with adrenal incidentalomas

Journal of Endocrinological Investigation

Volumn 35, Issue 4, 2012, Pages 395-400

  Tzanela, M ^a   Mantzou, E ^b   Saltiki, K ^b   Tampourlou, M ^b   Kalogeris, N ^a   Hadjidakis, D ^b   Tsagarakis, S ^a,b   Alevizaki, M ^b  

^a EVANGELISMOS HOSPITAL   (Greece)

^b UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Adrenals; GR polymorphism; Subclinical hypercortisolism

Indexed keywords

DEXAMETHASONE; GLUCOCORTICOID RECEPTOR; HYDROCORTISONE;

ADRENAL FUNCTION; ADRENAL INCIDENTALOMA; ADULT; ARTICLE; BCL1 GENE; BONE METABOLISM; DEXAMETHASONE SUPPRESSION TEST; FEMALE; GENE; GENETIC POLYMORPHISM; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERCORTISOLISM; HYPOTHALAMUS HYPOPHYSIS ADRENAL SYSTEM; MAJOR CLINICAL STUDY; MALE; METABOLIC PARAMETERS; METABOLIC SYNDROME X; ORAL GLUCOSE TOLERANCE TEST; OSTEOPENIA; OSTEOPOROSIS; TERTIARY HEALTH CARE; TUMOR VOLUME;

ADRENAL GLAND NEOPLASMS; AGED; CROSS-SECTIONAL STUDIES; CYCLIN D1; FEMALE; GENETIC VARIATION; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; RECEPTORS, GLUCOCORTICOID;

EID: 84863965892     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.3275/7840     Document Type: Article

References (28)

1. Tsagarakis S, Roboti C, Kokkoris P, Vasiliou V, Alevizaki C, Thalassinos N. Elevated post-dexamethasone suppression cortisol concentrations correlate with hormonal alterations of the hypothalamo-pituitary adrenal axis in patients with adrenal incidentalomas. Clin Endocrinol (Oxf) 1998, 49: 165-71. (Pubitemid 28372643)
2. Valli N, Catargi B, Ronci N, et al. Biochemical screening for subclinical cortisol-secreting adenomas amongst adrenal incidentalomas. Eur J Endocrinol 2001, 144: 401-8. (Pubitemid 32409594)
3. Tsagarakis S, Kokkoris P, Roboti C, et al. The low-dose dexamethasone suppression test in patients with adrenal incidentalomas: comparisons with clinically euadrenal subjects and patients with Cushing's syndrome. Clin Endocrinol (Oxf) 1998, 48: 627-33. (Pubitemid 28253000)
4. Terzolo M, Pia A, Ali A, et al. Adrenal incidentaloma: a new cause of the metabolic syndrome? J Clin Endocrinol Metab 2002, 87: 998-1003. (Pubitemid 36121054)
5. Hadjidakis D, Tsagarakis S, Roboti C, et al. Does subclinical hypercortisolism adversely affect the bone mineral density of patients with adrenal incidentalomas? Clin Endocrinol (Oxf) 2003, 58: 72-7. (Pubitemid 36098851)
6. Chiodini I, Morelli V, Masserini B, et al. Bone mineral density, prevalence of vertebral fractures, and bone quality in patients with adrenal incidentalomas with and without subclinical hypercortisolism: an Italian multicenter study. J Clin Endocrinol Metab 2009, 94: 3207-14.
7. Tauchmanovà L, Rossi R, Biondi B, et al. Patients with subclinical Cushing's syndrome due to adrenal adenoma have increased cardiovascular risk. J Clin Endocrinol Metab 2002, 87: 4872-8. (Pubitemid 35316318)
8. Lamberts SW, Koper JW, Biemond P, den Holder FH, de Jong FH. Cortisol receptor resistance: the variability of its clinical presentation and response to treatment. J Clin Endocrinol Metab 1992, 74: 313-21.
9. Arai K, Chrousos GP. Syndromes of glucocorticoid and mineralocorticoid resistance. Steroids 1995, 60: 173-9.
10. Newfield RS, Kalaitzoglou G, Licholai T, et al. Normocortisolemic Cushing's syndrome initially presenting with increased glucocorticoid receptor numbers. J Clin Endocrinol Metab 2000, 85: 14-21. (Pubitemid 32268783)
11. Bray PJ, Cotton RG. Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms. Hum Mutat 2003, 21: 557-68. (Pubitemid 36667344)
12. van Rossum EF, Lamberts SW. Polymorphisms in the glucocorticoid receptor gene and their associations with metabolic parameters and body composition. Recent Prog Horm Res 2004, 59: 333-57.
13. van Rossum EF, Koper JW, van den Beld AW, et al. Identification of the BclI polymorphism in the glucocorticoid receptor gene: association with sensitivity to glucocorticoids in vivo and body mass index. Clin Endocrinol (Oxf) 2003, 59: 585-92. (Pubitemid 37357618)
14. Stevens A, Ray DW, Zeggini E, et al. Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J Clin Endocrinol Metab 2004, 89: 892-7. (Pubitemid 38269907)
15. Lin RC, Wang XL, Dalziel B, Caterson ID, Morris BJ. Association of obesity, but not diabetes or hypertension, with glucocorticoid receptor N363S variant. Obes Res 2003, 11: 802-8. (Pubitemid 41151607)
16. Watt GC, Harrap SB, Foy CJ, et al. Abnormalities of glucocorticoid metabolism and the renin-angiotensin system: a four-corners approach to the identification of genetic determinants of blood pressure. J Hypertens 1992, 10: 473-82.
17. Ukkola O, Rosmond R, Tremblay A, Bouchard C. Glucocorticoid receptor Bcl I variant is associated with an increased atherogenic profile in response to long-term overfeeding. Atherosclerosis 2001, 157: 221-4. (Pubitemid 32539374)
18. Syed AA, Halpin CG, Irving JA, et al. A common intron 2 polymorphism of the glucocorticoid receptor gene is associated with insulin resistance in men. Clin Endocrinol (Oxf) 2008, 68: 879-84. (Pubitemid 351703957)
19. van Schoor NM, Dennison E, Lips P, Uitterlinden AG, Cooper C. Serum fasting cortisol in relation to bone, and the role of genetic variations in the glucocorticoid receptor. Clin Endocrinol (Oxf) 2007, 67: 871-8. (Pubitemid 350135130)
20. Szappanos A, Patocs A, Toke J, et al. BclI polymorphism of the glucocorticoid receptor gene is associated with decreased bone mineral density in patients with endogenous hypercortisolism. Clin Endocrinol (Oxf) 2009, 71: 636-43.
21. World Health Organization. Definition, diagnosis and classification of diabetes mellitus and its complications. Report of a WHO Consultation. Part.1. Diagnosis and classification of diabetes mellitus. Geneva: World Health Organization 1999.
22. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC: Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985, 28: 412-9. (Pubitemid 15018832)
23. Hadjidakis D, Kokkinakis E, Giannopoulos G, Merakos G, Raptis SA: Bone mineral density of vertebrae, proximal femur and os calcis in normal Greek subjects as assessed by dual-energy X-ray absorptiometry: comparison with other populations. Eur J Clin Invest 1997, 27: 219-27. (Pubitemid 27160253)
24. Fleury I, Beaulieu P, Primeau M, Labuda D, Sinnett D, Krajinovic M. Characterization of the BclI polymorphism in the glucocorticoid receptor gene. Clin Chem 2003, 49: 1528-31. (Pubitemid 37011745)
25. Majnik J, Patocs A, Balogh K, et al. Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas. J Clin Endocrinol Metab 2006, 91: 2796-9. (Pubitemid 44024654)
26. Morelli V, Donadio F, Eller-Vainicher C, et al. Role of glucocorticoid receptor polymorphism in adrenal incidentalomas. Eur J Clin Invest 2010, 40: 803-11.
27. Vassilatou E, Vryonidou A, Michalopoulou S, et al. Hormonal activity of adrenal incidentalomas: results from a long-term followup study. Clin Endocrinol (Oxf) 2009, 70: 674-9.
28. Terzolo M, Bovio S, Reimondo G, et al. Subclinical Cushing's syndrome in adrenal incidentalomas. Endocrinol Metab Clin North Am 2005, 34: 423-39. (Pubitemid 40602730)