Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance

Human Genetics

Volumn 99, Issue 5, 1997, Pages 663-668

  Koper, Jan W ^a   Stolk, Ronald P ^b   De Lange, Pieter ^a   Huizenga, Nannette A T M ^a   Molijin, Gerd Jan ^a   Pols, Huibert A P ^a,b   Grobbee, Diederick E ^b   Karl, Michael ^c   De Jong, Frank H ^a   Brinkmann, Albert O ^b   Lamberts, Steven W J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DEXAMETHASONE; GLUCOCORTICOID; GLUCOCORTICOID RECEPTOR;

ADULT; AGED; ARTICLE; CANCER; CONTROLLED STUDY; DRUG METABOLISM; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HORMONE RESISTANCE; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOOD PRESSURE; BODY CONSTITUTION; BODY MASS INDEX; CHRONIC DISEASE; CODON; DRUG RESISTANCE; EXONS; FEMALE; GLUCOCORTICOIDS; HUMANS; MALE; MIDDLE AGED; NETHERLANDS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, GLUCOCORTICOID; REGRESSION ANALYSIS; SEX CHARACTERISTICS;

EID: 0030943735     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050425     Document Type: Article

References (26)

1. Bamberger CM, Bamberger AM, De Castro M, Chrousos GP (1995) Glucocorticoid receptor β, a potential endogenous inhibitor of glucocorticoid action in humans. J Clin Invest 95: 2435-2441
2. Beato M, Herrlich P, Schütz G (1995) Steroid hormone receptors: many actors in search of a plot. Cell 83:851-857
3. Brönnegård M, Werner S, Gustafsson JA (1986) Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom. J Clin Invest 78:1270-1278
4. De Castro M, Elliot S, Kino T, Bamberger C, Karl M, Webster E, Chrousos GP (1996) The non-ligand binding β-isoform of the human glucocorticoid receptor (hGRβ): tissue levels, mechanism of action, and potential physiologic role. Mol Med 2: 597-607
5. Chrousos GP, Detera-Wadleigh SD, Karl M (1993) Syndromes of glucocorticoid resistance. Ann Intern Med 119:1113-1124
6. Cole T, Blendy J, Monaghan A, Krieglstein K, Schmid W, Aguzzi A, Fantuzzi G, Hummler E, Unsicker K, Schütz G (1995) Targeted disruption of the glucocorticoid receptor gene blocks adrenergic chromaffin cell development and severely retards lung maturation. Genes Dev 9:1606-1621
7. Gaitan D, DeBold RC, Turney MK, Zhou P, Orth DN, Kovacs WJ (1995) Glucocorticoid receptor structure and function in an adrenocorticotropin-secreting small cell lung cancer. Mol Endocrinol 9:1193-1201
8. Gomi M, Iida S, Tsugawa M, Itoh Y, Moriwaki K, Fujii H, Yamashita S, Tamaki T, Tarui S (1987) In vitro studies of skin fibroblasts from a patient with a new type of primary cortisol resistance: glucocorticoid receptor status and glucocorticoid effect on DNA synthesis. Horm Metab Res 19:328-330
9. Hofman A, Grobbee DE, de Jong PT, Ouweland FA van den (1991) Determinants of disease and disability in the elderly: the Rotterdam Elderly Study. Eur J Epidemiol 7:403-422
10. Hollenberg SM, Weinberger C, Ong ES, Cerelli G, Oro A, Lebo R, Thompson EB, Rosenfeld MG, Evans RM (1985) Primary structure and expression of a functional human glucocorticoid receptor cDNA. Nature 318:635-641
11. Hurley DM, Accili D, Stratakis CA, Karl M, Vamvakopoulos N, Rorer E, Constantine K, Taylor SI, Chrousos GP (1991) Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance. J Clin Invest 87:680-686
12. Iida S, Gomi M, Moriwaki K, Itoh Y, Hirobe K, Matsuzawa Y, Katagiri S, Yonezawa T, Tarui S (1985) Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family. J Clin Endocrinol Metab 60:967-971
13. Karl M, Lamberts SW, Detera-Wadleigh SD, Encio IJ, Stratakis CA, Hurley DM, Accilli D, Chrousos GP (1993) Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene. J Clin Endocrinol Metab 76:683-689
14. Karl M, Lamberts SWJ, Koper JW, Katz DA, Huizenga NE, Kino T, Haddad BR, Hughes MR, Chrousos GP (1996) Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation. Proc Assoc Am Phys 108:296-307
15. Lamberts SW, Poldermans D, Zweens M, de Jong FH (1986) Familial cortisol resistance: differential diagnostic and therapeutic aspects. J Clin Endocrinol Metab 63:1328-1333
16. Lamberts SW, Koper JW, Biemond P, den Holder FH, de Jong FH (1992) Cortisol receptor resistance: the variability of its clinical presentation and response to treatment. J Clin Endocrinol Metab 74:313-321
17. Lamberts SWJ, Lely AJ van der, de Herder WW (1995) Transsphenoidal selective adenectomy is the treatment of choice in patients with Cushing's disease. Considerations concerning preoperative medical treatment and the long-term follow-up. J Clin Endocrinol Metab 80:3111-3113
18. Malchoff DM, Brufsky A, Reardon G, McDermott P, Javier EC, Bergh CH, Rowe D, Malchoff CD (1993) A mutation of the glucocorticoid receptor in primary cortisol resistance. J Clin Invest 91:1918-1925
19. Nawata H, Sekiya K, Higuchi K, Kato K, Ibayashi H (1987) Decreased deoxyribonucleic acid binding of glucocorticoid-receptor complex in cultured skin fibroblasts from a patient with the glucocorticoid resistance syndrome. J Clin Endocrinol Metab 65:219-226
20. Nugent C, Nichols T, Tyler F (1965) Diagnosis of Cushing's syndrome. Single dose dexamethasone suppression test. Arch Intern Med 116:172-176
21. Oakley RH, Sar M, Cidlowski JA (1996) The human glucocorticoid receptor βisoform. J Biol Chem 271:9550-9559
22. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
23. Ray DW (1996) Molecular mechanisms of glucocorticoid resistance. J Endocrinol 149:1-5
24. Soufi M, Kaiser U, Schneider A, Beato M, Westphal HM (1995) The DNA and steroid binding domains of the glucocorticoid receptor are not altered in mononuclear cells of treated CLL patients. Exp Clin Endocrinol 103:175-183
25. Vingerhoeds AC, Thijssen JH, Schwarz F (1976) Spontaneous hypercortisolism without Cushing's syndrome. J Clin Endocrinol Metab 43:1128-1133
26. Werner S, Thoren M, Gustafsson JA, Brönnegård M (1992) Glucocorticoid receptor abnormalities in fibroblasts from patients with idiopathic resistance to dexamethasone diagnosed when evaluated for adrenocortical disorders. J Clin Endocrinol Metab 75:1005-1009