A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemia

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 10, 2006, Pages 4131-4136

  Koeijvoets, Kristel C M C ^a   Van Rossum, Elisabeth F C ^a   Dallinga Thie, Geesje M ^a   Steyerberg, Ewout W ^a   Defesche, Joep C ^b   Kastelein, John J P ^b   Lamberts, Steven W J ^a   Sijbrands, Eric J G ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOCORTICOID RECEPTOR;

ADULT; AGED; ARTICLE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR RISK; CONTROLLED STUDY; DISEASE SEVERITY; DNA POLYMORPHISM; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; NETHERLANDS; OUTCOME ASSESSMENT; PRIORITY JOURNAL;

EID: 33749583798     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0578     Document Type: Article

References (33)

1. Brown MS, Goldstein JL 1986 A receptor-mediated pathway for cholesterol homeostasis. Science 232:34-47
2. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulski AG 1973 Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest 52:1544-1568
3. Sijbrands EJG, Westendorp RGJ, Defesche JC, de Meier PHEM, Smelt AHM, Kastelein JJP 2001 Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ 322:1019-1023
4. Umans-Eckenhausen MAW, Sijbrands EJG, Kastelein JJP, Defesche JC 2002 LDL-receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation 106:3031-3036
5. Sijbrands EJ, Westendorp RG, Paola Lombardi M, Havekes LM, Frants RR, Kastelein JJ, Smelt AH 2000 Additional risk factors influence excess mortality in heterozygous familial hypercholesterolemia. Atherosclerosis 149:421-425
6. Jansen ACM, van Aalst-Cohen ES, Tanck MW, Trip MD, Lansberg PJ, Liem AH, Roeters van Lennep HWO, Sijbrands EJG, Kastelein JJP 2004 The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolemia: data in 2400 patients. J Intern Med 256:482-490
7. Jansen ACM, van Aalst-Cohen ES, Tanck MWT, Cheng S, Fontecha MR, Li J, Defesche JC, Kastelein JJP 2005 Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 25:1-7
8. Leus FR, Zwart M, Kastelein JJP, Voorbij HAM 2001 PON2 gene variants are associated with clinical manifestations of cardiovascular disease in familial hypercholesterolemia patients. Atherosclerosis 154:641-649
9. Mohrschladt MF, van der Sman-de Beer F, Hofman MK, van der Krabben M, Westendorp RGJ, Smelt AHM 2005 Taq1B polymorphism in CETP gene: the influence on incidence of cardiovascular disease in statin-treated patients with familial hypercholesterolemia. Eur J Hum Genet 13:877-882
10. O'Malley JP, Maslen CL, Illingworth DR 1998 Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia. Circulation 97:1780-1783
11. Wittekoek ME, Moll E, Pimstone SM, Trip MD, Lansberg PJ, Defesche JC, van Doormaal JJ, Hayden MR, Kastelein JJ 1999 A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 19:2708-2713
12. Wittekoek ME, Pimstone SM, Reymer PW, Feuth L, Botma GJ, Defesche JC, Prins M, Hayden MR, Kastelein JJ 1998 A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia. Circulation 97:729-735
13. Bertolini S, Pisciotta L, Di Scala L, Langheim S, Bellocchio A, Masturzo P, Cantafora A, Martini S, Averna M, Pes G, Stefanutti C, Calandra S 2004 Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia. Atherosclerosis 174:57-65
14. Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, Alonso R, Mata P, Pocovi M, Civeira F; Spanish FH group 2003 A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolemia. J Med Genet 40:163-168
15. Lu H, Higashikata T, Inazu A, Nohara A, Yu W, Shimizu M, Mabuchi H 2002 Association of estrogen receptor-α gene polymorphisms with coronary artery disease in patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 22:821-827
16. Ordovas JM 2003 Cardiovascular disease genetics: a long and winding road. Curr Opin Lipidol 14:47-54
17. Van Rossum EFC, Lamberts SWJ 2004 Polymorphisms in the glucocorticoid receptor gene and their associations with metabolic parameters and body composition. Recent Prog Horm Res 59:333-357
18. Van Rossum EFC, Koper JW, Huizenga NATM, Uitterlinden AG, Janssen JAMJL. Brinkman AO, Grobbee DE, de Jong FH, van Duyn CM, Pols HAP, Lamberts SWJ 2002 A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 51:3128-3134
19. Russcher H, van Rossum EFC, de Jong FH, Brinkmann AO, Lamberts SWJ, Koper JW 2005 Increased expression of the glucocorticoid receptor-A translational isoform as a result of the ER22/23EK polymorphism. Mol Endocrinol 19:1687-1696
20. Russcher H, Smit P, van den Akker EL, van Rossum EF, Brinkmann AO, de Jong FH, Lamberts SW, Koper JW 2005 Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid-regulated gene expression. J Clin Endocrinol Metab 90:5804-5810
21. Yudt MR, Cidlowski JA 2001 Molecular identification and characterization of a and b forms of the glucocorticoid receptor. Mol Endocrinol 15:1093-1103
22. Van Rossum EFC, Voorhoeve PG, te Velde SJ, Koper JW, Delemarre-van de Waal HA, Kemper HCG, Lamberts SWJ 2004 The ER22/23EK polymorphism in the glucocorticoid receptor gene is associated with a beneficial body composition and muscle strength in young adults. J Clin Endocrinol Metab 89:4004-4009
23. Van Rossum EFC, Feelders FA, van den Beld AW, Uitterlinden AG, Janssen JAMJL. Ester W, Brinkmann AO, Grobbee DE, de Jong FH, Pols AP, Koper JW, Lamberts SWJ 2004 Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men. Am J Med 117:158-162
24. Fouchier SW, Defesche JC, Umans-Eckenhausen MAW, Kastelein JJP 2001 The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet 109:602-615
25. Girod JP, Brotman DJ 2004 Does altered glucocorticoid homeostasis increase cardiovascular risk? Cardiovasc Res 64:217-226
26. Fraser R, Ingram MC, Anderson NH, Morrison C, Davies E, Conell JMC 1999 Cortisol effects on body mass, blood pressure, and cholesterol in the general population. Hypertension 33:1364-1368
27. Schaaf MJM, Cidlowski JA 2002 Molecular mechanisms of glucocorticoid action and resistance. J Steroid Biochem Mol Biol 83:37-48
28. Handa RJ, Burgess LH, Kerr JE, O'Keefe JA 1994 Gonadal steroid hormone receptors and sex differences in the hypothalamo-pituitary-adrenal axis. Horm Behav 28:464-476
29. Da Silva JA 1999 Sex hormones and glucocorticoids: interactions with the immune system. Ann NY Acad Sci 876:102-117
30. Viau V 2002 Functional cross-talk between the hypothalamic-pituitary- gonadal and -adrenal axes. J Neuroendocrinol 14:506-513
31. Carrel L, Willard HF 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404
32. Hittelman AB, Burakov D, Iniguez-Lluhi JA, Freedman LP, Garabedian MJ 1999 Differential regulation of glucocorticoid receptor transcriptional activation via AF-1-associated proteins. EMBO J 18:5380-5388
33. Chen W, Rogatsky I, Garabedian MJ 2006 MED14 and MED1 differentially regulate target-specific gene activation by the glucocorticoid receptor. Mol Endocrinol 20:560-572