Role of glucocorticoid receptor polymorphism in adrenal incidentalomas

European Journal of Clinical Investigation - Tập 40 Số 9 - Trang 803-811 - 2010
Valentina Morelli1, F Donadio, Cristina Eller-Vainicher, Valentina Cirello, Luca Olgiati, Chiara Savoca, Elisa Cairoli, Antonio Stefano Salcuni, Paolo Beck‐Peccoz, Iacopo Chiodini
1Unit of Endocrinology and Diabetology, Department of Medical Sciences, University of Milan, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.

Tóm tắt

Eur J Clin Invest 2010; 40 (9): 803–811AbstractBackground  Adrenal incidentalomas (AI) have been associated with and an increased prevalence of metabolic and bone complications. The N363S and BclI polymorphisms of the glucocorticoid receptor (GR) have been associated with an increased sensitivity to glucocorticoid (GC). This observational study aims to evaluate whether BclI and N363S polymorphisms play a role in the development of complications in AI.Materials and methods  We enrolled 100 patients with AI (66 F; 34M). The presence of diabetes, arterial hypertension (AH), dyslipidaemia, osteoporosis and vertebral fracture (Fx), waist circumference and the Body Mass Index (BMI) were assessed. DNA samples were genotyped. Patients with wild‐type BclI, wild‐type N363S and heterozygous BclI polymorphism were classified as carriers of haplotype 1 (H1; n = 86), patients with homozygous BclI and heterozygous N363S polymorphism of GR of haplotype 2 (H2; n = 14).Results  We found no clinical or biochemical differences between haplotype 1 and 2 groups, but a higher prevalence of the simultaneous presence of Fx plus AH in H2 patients (H2 n = 7, H1 n = 16, P = 0·01). Logistic regression analysis showed that the presence of Fx and of AH and the combination of the presence of Fx plus AH were associated with the H2 genotype regardless of the degree of cortisol secretion, age, BMI and BMD (OR 4·88, 95%CI 1·47–18·40, P = 0·05; OR 8·25, 95%CI 0·98–69·52, P = 0·05; OR 7·25, 95%CI 1·57–35·78, P = 0·011; respectively).Conclusions  In AI patients, the presence of the haplotype 2 of BclI and N363S is associated with the presence of AH, Fx and with the combination of Fx and AH.

Từ khóa


Tài liệu tham khảo

10.1056/NEJM199011153232007

10.1016/S0889-8529(05)70242-5

10.1210/jc.79.6.1530

Kloos RT, 1995, Incidentally discovered adrenal masses, Endocr Rev, 16, 460

10.1530/eje.0.1490273

10.1136/jcp.2006.044313

Mantero F, 2000, A survey on adrenal incidentaloma in Italy. Study Group on Adrenal Tumors of the Italian Society of Endocrinology, J Clin Endocrinol Metab, 85, 637

10.1210/jc.75.3.826

10.1007/BF03344133

10.1111/j.1365-2265.2009.03551.x

10.1210/jc.2003-031413

10.7326/0003-4819-147-8-200710160-00006

10.1530/eje.1.02045

10.1210/jc.2009-0468

10.1210/jcem.87.3.8277

10.1046/j.1365-2265.1998.00437.x

10.1210/jc.2001-011766

10.1007/s00223-004-0270-2

10.1210/jc.83.1.144

10.2337/diabetes.51.10.3128

10.1046/j.1365-2265.2003.01888.x

10.1210/rp.59.1.333

10.1210/jc.2003-031422

10.1016/j.amjmed.2004.01.027

10.1016/j.tem.2005.10.009

10.1210/jc.2006-0066

10.1111/j.1365-2265.2007.02978.x

10.1111/j.1749-6632.2009.05013.x

10.1046/j.1365-2265.2003.01798.x

10.1111/j.1365-2265.2009.03528.x

The Expert Committee on the Diagnosis and Classification of Diabetes Mellitus, 2003, Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus, Diabetes Care, 26, S5, 10.2337/diacare.26.2007.S5

10.1001/jama.285.19.2486

10.1210/jc.2008-0125

10.1111/j.1365-2265.2010.03794.x

10.1002/jbmr.5650080915

10.1016/j.jsbmb.2004.08.005

10.1016/j.jsbmb.2006.04.004

10.1111/j.1365-2362.2009.02234.x

Cappuccio FP, 2000, Unravelling the links between calcium excretion, salt intake, hypertension, kidney stones and bone metabolism, J. Nephrol, 13, 169

10.1038/jhh.2008.156

10.1038/hr.2009.99

Thông tin
Thông tin xuất bản

European Journal of Clinical Investigation

Tập 40 Số 9

803-811

Thông tin tác giả