Glucocorticoid receptor gene polymorphisms associated with more aggressive disease phenotype in MS

Journal of Neuroimmunology

Volumn 186, Issue 1-2, 2007, Pages 150-155

  van Winsen, L M L ^a   Hooper van Veen, T ^a   van Rossum, E F C ^b   Koper, J W ^b   Barkhof, F ^a   Polman, C H ^a   Uitdehaag, B M J ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Disease course; Glucocorticoid receptor polymorphisms; Multiple sclerosis

Indexed keywords

GLUCOCORTICOID RECEPTOR;

ADULT; ARTICLE; CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENETIC POLYMORPHISM; HORMONE SENSITIVITY; HUMAN; MALE; MULTIPLE SCLEROSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ARGININE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LYSINE; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS; ODDS RATIO; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, GLUCOCORTICOID;

EID: 34248661551     PISSN: 01655728     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jneuroim.2007.02.006     Document Type: Article

References (37)

1. Barcellos L.F., Oksenberg J.R., Begovich A.B., Martin E.R., Schmidt S., Vittinghoff E., Goodin D.S., Pelletier D., Lincoln R.R., Bucher P., Swerdlin A., Pericak-Vance M.A., Haines J.L., and Hauser S.L. HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course. Am. J. Hum. Genet. 72 (2003) 710-716
2. Besedovsky H.O., and del Rey A. Immune-neuro-endocrine interactions: facts and hypotheses. Endocr. Rev. 17 (1996) 64-102
3. Bonifati D.M., Witchel S.F., Ermani M., Hoffman E.P., Angelini C., and Pegoraro E. The glucocorticoid receptor N363S polymorphism and steroid response in Duchenne dystrophy. J. Neurol. Neurosurg. Psychiatry 77 (2006) 1177-1179
4. Brassat D., Azais-Vuillemin C., Yaouanq J., Semana G., Reboul J., Cournu I., Mertens C., Edan G., Lyon-Caen O., Clanet M., and Fontaine B. Familial factors influence disability in MS multiplex families. French Multiple Sclerosis Genetics Group. Neurology 52 (1999) 1632-1636
5. Chataway J., Mander A., Robertson N., Sawcer S., Deans J., Fraser M., Broadley S., Clayton D., and Compston A. Multiple sclerosis in sibling pairs: an analysis of 250 families. J. Neurol. Neurosurg. Psychiatry 71 (2001) 757-761
6. Chrousos G.P. The hypothalamic-pituitary-adrenal axis and immune-mediated inflammation. N. Engl. J. Med. 332 (1995) 1351-1362
7. Dai J., Buijs R., and Swaab D. Glucocorticoid hormone (cortisol) affects axonal transport in human cortex neurons but shows resistance in Alzheimer's disease. Br. J. Pharmacol. 143 (2004) 606-610
8. Decorti G., De Iudicibus S., Stocco G., Martelossi S., Drigo I., Bartoli F., and Ventura A. Glucocorticoid receptor polymorphisms in inflammatory bowel disease. Gut 55 (2006) 1053-1054
9. Gold S.M., Mohr D.C., Huitinga I., Flachenecker P., Sternberg E.M., and Heesen C. The role of stress-response systems for the pathogenesis and progression of MS. Trends Immunol. 26 (2005) 644-652
10. Hauser S.L., and Oksenberg J.R. The neurobiology of multiple sclerosis: genes, inflammation, and neurodegeneration. Neuron 52 (2006) 61-76
11. Huizenga N.A., Koper J.W., De Lange P., Pols H.A., Stolk R.P., Burger H., Grobbee D.E., Brinkmann A.O., De Jong F.H., and Lamberts S.W. A polymorphism in the glucocorticoid receptor gene may be associated with and increased sensitivity to glucocorticoids in vivo. J. Clin. Endocrinol. Metab. 83 (1998) 144-151
12. Kalkers N.F., Bergers E., Castelijns J.A., van Walderveen M.A., Bot J.C., Ader H.J., Polman C.H., and Barkhof F. Optimizing the association between disability and biological markers in MS. Neurology 57 (2001) 1253-1258
13. Koper J.W., Stolk R.P., de Lange P., Huizenga N.A., Molijn G.J., Pols H.A., Grobbee D.E., Karl M., de Jong F.H., Brinkmann A.O., and Lamberts S.W. Lack of association between five polymorphisms in the human glucocorticoid receptor gene and glucocorticoid resistance. Hum. Genet. 99 (1997) 663-668
14. Morahan G., Huang D., Ymer S.I., Cancilla M.R., Stephen K., Dabadghao P., Werther G., Tait B.D., Harrison L.C., and Colman P.G. Linkage disequilibrium of a type 1 diabetes susceptibility locus with a regulatory IL12B allele. Nat. Genet. 27 (2001) 218-221
15. Neumann H. Molecular mechanisms of axonal damage in inflammatory central nervous system diseases. Curr. Opin. Neurol. 16 3 ((Jun) 2003) 267-273 (Review)
16. Noseworthy J.H. Progress in determining the causes and treatment of multiple sclerosis. Nature 399 (1999) A40-A47
17. Poser C.M., Paty D.W., Scheinberg L., McDonald W.I., Davis F.A., Ebers G.C., Johnson K.P., Sibley W.A., Silberberg D.H., and Tourtellotte W.W. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann. Neurol. 13 (1983) 227-231
18. Rosmond R., Chagnon Y.C., Holm G., Chagnon M., Perusse L., Lindell K., Carlsson B., Bouchard C., and Bjorntorp P. A glucocorticoid receptor gene marker is associated with abdominal obesity, leptin, and dysregulation of the hypothalamic-pituitary-adrenal axis. Obes. Res. 8 (2000) 211-218
19. Russcher H., van Rossum E.F., de Jong F.H., Brinkmann A.O., Lamberts S.W., and Koper J.W. Increased expression of the glucocorticoid receptor-A translational isoform as a result of the ER22/23EK polymorphism. Mol. Endocrinol. 19 (2005) 1687-1696
20. Russcher H., Smit P., van den Akker E.L., van Rossum E.F., Brinkmann A.O., de Jong F.H., Lamberts S.W., and Koper J.W. Two polymorphisms in the glucocorticoid receptor gene directly affect glucocorticoid-regulated gene expression. J. Clin. Endocrinol. Metab. 90 (2005) 5804-5810
21. Ryan A.W., Thornton J.M., Brophy K., Daly J.S., McLoughlin R.M., O'Morain C., Abuzakouk M., Kennedy N.P., Stevens F.M., Feighery C., Kelleher D., and McManus R. Chromosome 5q candidate genes in coeliac disease: genetic variation at IL4, IL5, IL9, IL13, IL17B and NR3C1. Tissue Antigens 65 (2005) 150-155
22. Schumann E.M., Kumpfel T., Then Bergh F., Trenkwalder C., Holsboer F., and Auer D.P. Activity of the hypothalamic-pituitary-adrenal axis in multiple sclerosis: correlations with gadolinium-enhancing lesions and ventricular volume. Ann. Neurol. 51 (2002) 763-767
23. Sternberg E.M. Neuroendocrine regulation of autoimmune/inflammatory disease. J. Endocrinol. 169 (2001) 429-435
24. Stevens A., Ray D.W., Zeggini E., John S., Richards H.L., Griffiths C.E., and Donn R. Glucocorticoid sensitivity is determined by a specific glucocorticoid receptor haplotype. J. Clin. Endocrinol. Metab. 89 (2004) 892-897
25. Swaab D.F., Bao A.M., and Lucassen P.J. The stress system in the human brain in depression and neurodegeneration. Ageing Res. Rev. 4 (2005) 141-194
26. van de Wetering M., Oosterwegel M., Dooijes D., and Clevers H. Identification and cloning of TCF-1, a T lymphocyte-specific transcription factor containing a sequence-specific HMG box. EMBO J. 10 (1991) 123-132
27. van den Akker E.L., Russcher H., van Rossum E.F., Brinkmann A.O., de Jong F.H., Hokken A., Pols H.A., Koper J.W., and Lamberts S.W. Glucocorticoid receptor polymorphism affects transrepression but not transactivation. J. Clin. Endocrinol. Metab. 91 7 ((Jul) 2006) 2800-2803 (Electronic publication ahead of print 2006 May 9)
28. van Rossum E.F., Koper J.W., Huizenga N.A., Uitterlinden A.G., Janssen J.A., Brinkmann A.O., Grobbee D.E., de Jong F.H., van Duyn C.M., Pols H.A., and Lamberts S.W. A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 51 (2002) 3128-3134
29. van Rossum E.F., Koper J.W., van den Beld A.W., Uitterlinden A.G., Arp P., Ester W., Janssen J.A., Brinkmann A.O., de Jong F.H., Grobbee D.E., Pols H.A., and Lamberts S.W. Identification of the BclI polymorphism in the glucocorticoid receptor gene: association with sensitivity to glucocorticoids in vivo and body mass index. Clin. Endocrinol. (Oxf) 59 (2003) 585-592
30. van Rossum E.F., Roks P.H., de Jong F.H., Brinkmann A.O., Pols H.A., Koper J.W., and Lamberts S.W. Characterization of a promoter polymorphism in the glucocorticoid receptor gene and its relationship to three other polymorphisms. Clin. Endocrinol. (Oxf) 61 (2004) 573-581
31. van Rossum E.F., Binder E.B., Majer M., Koper J.W., Ising M., Modell S., Salyakina D., Lamberts S.W., and Holsboer F. Polymorphisms of the glucocorticoid receptor gene and major depression. Biol. Psychiatry 59 (2006) 681-688
32. van Veen T., Crusius J.B., Schrijver H.M., Bouma G., Killestein J., van Winsen L., Salvador Pena A., Polman C.H., and Uitdehaag B.M. Interleukin-12p40 genotype plays a role in the susceptibility to multiple sclerosis. Ann. Neurol. 50 (2001) 275
33. van Waesberghe J.H., Kamphorst W., De Groot C.J., van Walderveen M.A., Castelijns J.A., Ravid R., Lycklama a Nijeholt G.J., van der Valk P., Polman C.H., Thompson A.J., and Barkhof F. Axonal loss in multiple sclerosis lesions: magnetic resonance imaging insights into substrates of disability. Ann. Neurol. 46 (1999) 747-754
34. van Winsen L.L., Hooper-van Veen T., van Rossum E.F., Polman C.H., van den Berg T.K., Koper J.W., and Uitdehaag B.M. The impact of glucocorticoid receptor gene polymorphisms on glucocorticoid sensitivity is outweighted in patients with multiple sclerosis. J. Neuroimmunol. 167 (2005) 150-156
35. van Winsen L.M., Muris D.F., Polman C.H., Dijkstra C.D., van den Berg T.K., and Uitdehaag B.M. Sensitivity to glucocorticoids is decreased in relapsing remitting multiple sclerosis. J. Clin. Endocrinol. Metab. 90 (2005) 734-740
36. Weaver J.U., Hitman G.A., and Kopelman P.G. An association between a Bc1I restriction fragment length polymorphism of the glucocorticoid receptor locus and hyperinsulinaemia in obese women. J. Mol. Endocrinol. 9 (1992) 295-300
37. Willman C.L., Sever C.E., Pallavicini M.G., Harada H., Tanaka N., Slovak M.L., Yamamoto H., Harada K., Meeker T.C., List A.F., et al. Deletion of IRF-1, mapping to chromosome 5q31.1, in human leukemia and preleukemic myelodysplasia. Science 259 (1993) 968-971