Variation in the glucocorticoid receptor gene (NR3C1) may be associated with corticosteroid dependency and resistance in children with Crohn's disease

Pharmacogenetics and Genomics

Volumn 21, Issue 8, 2011, Pages 454-460

  Krupoves, Alfreda ^a,b   MacK, David ^d   Deslandres, Colette ^a   Seidman, Ernest ^c   Amre, Devendra K ^a,b  

^a UNIVERSITY OF MONTREAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

^c MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

Author keywords

corticosteroids; Crohn's disease; glucocorticoid receptor; NR3C1; pediatric; pharmacogenetics

Indexed keywords

BUDESONIDE; DNA; GLUCOCORTICOID RECEPTOR; IMMUNOMODULATING AGENT; MEPREDNISONE; MESALAZINE; PREDNISONE;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CHILDHOOD DISEASE; COHORT ANALYSIS; CORTICOSTEROID THERAPY; CROHN DISEASE; DNA ISOLATION; DRUG DOSE REDUCTION; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HORMONE RESISTANCE; HORMONE RESPONSE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PHARMACOGENETICS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79960847251     PISSN: 17446872     EISSN: 17446880     Source Type: Journal    
DOI: 10.1097/FPC.0b013e3283476a01     Document Type: Article

References (41)

1. Benchimol EI, Guttmann A, Griffiths AM, Rabeneck L, Mack DR, Brill H, et al. Increasing incidence of paediatric inflammatory bowel disease in Ontario, Canada: evidence from health administrative data. Gut 2009; 58:1490-1497.
2. Bernstein CN, Blanchard JF, Rawsthorne P, Wajda A. Epidemiology of Crohn's disease and ulcerative colitis in a central Canadian province: a population-based study. Am J Epidemiol 1999; 149:916-924. (Pubitemid 29230706)
3. Bernstein CN, Papineau N, Zajaczkowski J, Rawsthorne P, Okrusko G, Blanchard JF. Direct hospital costs for patients with inflammatory bowel disease in a Canadian tertiary care university hospital. Am J Gastroenterol 2000; 95:677-683. (Pubitemid 30123901)
4. Lowe AM, Roy PO, Poulin M, Michel P, Bitton A, St-Onge L, et al. Epidemiology of Crohn's disease in Quebec, Canada. Inflamm Bowel Dis 2009; 15:429-435.
5. Malaty HM, Fan X, Opekun AR, Thibodeaux C, Ferry GD. Rising incidence of inflammatory bowel disease among children: a 12-year study. J Pediatr Gastroenterol Nutr 2010; 50:27-31.
6. Faubion WA Jr, Loftus EV Jr, Harmsen WS, Zinsmeister AR, Sandborn WJ. The natural history of corticosteroid therapy for inflammatory bowel disease: a population-based study. Gastroenterology 2001; 121:255-260. (Pubitemid 32729372)
7. Ho GT, Chiam P, Drummond H, Loane J, Arnott ID, Satsangi J. The efficacy of corticosteroid therapy in inflammatory bowel disease: analysis of a 5-year UK inception cohort. Aliment Pharmacol Ther 2006; 24:319-330. (Pubitemid 43972900)
8. Hyams JS, Lerer T, Griffiths A, Pfefferkorn M, Kugathasan S, Evans J, et al. Long-term outcome of maintenance infliximab therapy in children with Crohn's disease. Inflamm Bowel Dis 2009; 15:816-822.
9. Markowitz J, Grancher K, Kohn N, Lesser M, Daum F. A multicenter trial of 6-mercaptopurine and prednisone in children with newly diagnosed Crohn's disease. Gastroenterology 2000; 119:895-902.
10. Munkholm P, Langholz E, Davidsen M, Binder V. Frequency of glucocorticoid resistance and dependency in Crohn's disease. Gut 1994; 35:360-362.
11. Tung J, Loftus EV Jr, Freese DK, El-Youssef M, Zinsmeister AR, Melton LJ III, et al. A population-based study of the frequency of corticosteroid resistance and dependence in pediatric patients with Crohn's disease and ulcerative colitis. Inflamm Bowel Dis 2006; 12:1093-1100. (Pubitemid 44847465)
12. Boot AM, Bouquet J, Krenning EP, de Muinck Keizer-Schrama SM. Bone mineral density and nutritional status in children with chronic inflammatory bowel disease. Gut 1998; 42:188-194. (Pubitemid 28214002)
13. Su CG, Judge TA, Lichtenstein GR. Extraintestinal manifestations of inflammatory bowel disease. Gastroenterol Clin North Am 2002; 31: 307-327. (Pubitemid 34733048)
14. Tripathi RC, Kipp MA, Tripathi BJ, Kirschner BS, Borisuth NS, Shevell SK, et al. Ocular toxicity of prednisone in pediatric patients with inflammatory bowel disease. Lens Eye Toxic Res 1992; 9:469-482. (Pubitemid 23111717)
15. Chow DK, Sung JJ, Tsoi KK,Wong VW,Wu JC, Leong RW, et al. Predictors of corticosteroid-dependent and corticosteroid-refractory inflammatory bowel disease: analysis of a Chinese cohort study. Aliment Pharmacol Ther 2009; 29:843-854.
16. Franchimont DP, Louis E, Croes F, Belaiche J. Clinical pattern of corticosteroid dependent Crohn's disease. Eur J Gastroenterol Hepatol 1998; 10:821-825. (Pubitemid 28493255)
17. Markowitz J, Hyams J, Mack D, LeLeiko N, Evans J, Kugathasan S, et al. Corticosteroid therapy in the age of infliximab: acute and 1-year outcomes in newly diagnosed children with Crohn's disease. Clin Gastroenterol Hepatol 2006; 4:1124-1129. (Pubitemid 44311642)
18. De Iudicibus S, Stocco G, Martelossi S, Drigo I, Norbedo S, Lionetti P, et al. Association of BclI polymorphism of the glucocorticoid receptor gene locus with response to glucocorticoids in inflammatory bowel disease. Gut 2007; 56:1319-1320.
19. Decorti G, De IS, Stocco G, Martelossi S, Drigo I, Bartoli F, et al. Glucocorticoid receptor polymorphisms in inflammatory bowel disease. Gut 2006; 55:1053-1054. (Pubitemid 43962630)
20. Zhou J, Cidlowski JA. The human glucocorticoid receptor: one gene, multiple proteins and diverse responses. Steroids 2005; 70:407-417. (Pubitemid 40616039)
21. Krupoves A, Seidman E, Mack D, Deslandres C, Bucionis V, Amre D. Immediate and long-term outcomes of corticosteroid therapy in pediatric Crohn's disease patients. Inflamm Bowel Dis 2011; 17:954-962.
22. Lennard-Jones JE. Classification of inflammatory bowel disease. Scand J Gastroenterol Suppl 1989; 170:2-6. (Pubitemid 20015811)
23. Sands BE. From symptom to diagnosis: clinical distinctions among various forms of intestinal inflammation. Gastroenterology 2004; 126: 1518-1532. (Pubitemid 38649870)
24. Vermeire S, Schreiber S, Sandborn WJ, Dubois C, Rutgeerts P. Correlation between the Crohn's disease activity and Harvey-Bradshaw indices in assessing Crohn's disease severity. Clin Gastroenterol Hepatol 2010; 8:357-363.
25. Hyams JS, Ferry GD, Mandel FS, Gryboski JD, Kibort PM, Kirschner BS, et al. Development and validation of a pediatric Crohn's disease activity index. J Pediatr Gastroenterol Nutr 1991; 12:439-447.
26. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 2004; 74:106-120. (Pubitemid 38085242)
27. Van Rossum EF, Koper JW, Huizenga NA, Uitterlinden AG, Janssen JA, Brinkmann AO, et al. A polymorphism in the glucocorticoid receptor gene, which decreases sensitivity to glucocorticoids in vivo, is associated with low insulin and cholesterol levels. Diabetes 2002; 51:3128-3134.
28. 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; 59:333-357.
29. Van Rossum EF, Feelders RA, van den Beld AW, Uitterlinden AG, Janssen JA, Ester W, et al. Association of the ER22/23EK polymorphism in the glucocorticoid receptor gene with survival and C-reactive protein levels in elderly men. Am J Med 2004; 117:158-162. (Pubitemid 39055866)
30. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005; 21:263-265. (Pubitemid 40202029)
31. Duma D, Jewell CM, Cidlowski JA. Multiple glucocorticoid receptor isoforms and mechanisms of post-translational modification. J Steroid Biochem Mol Biol 2006; 102:11-21. (Pubitemid 44750633)
32. Hollenberg SM, Weinberger C, Ong ES, Cerelli G, Oro A, Lebo R, et al. Primary structure and expression of a functional human glucocorticoid receptor cDNA. Nature 1985; 318:635-641. (Pubitemid 16172412)
33. Van Rossum EF, Koper JW, van den Beld AW, Uitterlinden AG, Arp P, EsterW, 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; 59:585-592. (Pubitemid 37357618)
34. Derijk RH, Schaaf MJ, Turner G, Datson NA, Vreugdenhil E, Cidlowski J, et al. A human glucocorticoid receptor gene variant that increases the stability of the glucocorticoid receptor beta-isoform mRNA is associated with rheumatoid arthritis. J Rheumatol 2001; 28:2383-2388. (Pubitemid 33031964)
35. Mill J,Wigg K, Burcescu I, Vetro A, Kiss E, Kapornai K, et al. Mutation screen and association analysis of the glucocorticoid receptor gene (NR3C1) in childhood-onset mood disorders (COMD). Am J Med Genet B Neuropsychiatr Genet 2009; 150B:866-873.
36. Nicolaides NC, Galata Z, Kino T, Chrousos GP, Charmandari E. The human glucocorticoid receptor: molecular basis of biologic function. Steroids 2009; 75:1-12.
37. Hagendorf A, Koper JW, de Jong FH, Brinkmann AO, Lamberts SW, Feelders RA. Expression of the human glucocorticoid receptor splice variants alpha, beta, and P in peripheral blood mononuclear leukocytes in healthy controls and in patients with hyper-and hypocortisolism. J Clin Endocrinol Metab 2005; 90:6237-6243. (Pubitemid 41606550)
38. Maltese P, Canestrari E, Palma L, Ruzzo A, Corini F, Menotta M, et al. High resolution melting (HRM) analysis for the detection of ER22/23EK, BclI, and N363S polymorphisms of the glucocorticoid receptor gene. J Steroid Biochem Mol Biol 2009; 113:269-274.
39. Flood L, Lofberg R, Stierna P, Wikstrom AC. Glucocorticoid receptor mRNA in patients with ulcerative colitis: a study of responders and nonresponders to glucocorticosteroid therapy. Inflamm Bowel Dis 2001; 7:202-209. (Pubitemid 32776512)
40. Honda M, Orii F, Ayabe T, Imai S, Ashida T, Obara T, et al. Expression of glucocorticoid receptor beta in lymphocytes of patients with glucocorticoidresistant ulcerative colitis. Gastroenterology 2000; 118:859-866. (Pubitemid 30243749)
41. Rautanen A, Eriksson JG, Kere J, Andersson S, Osmond C, Tienari P, et al. Associations of body size at birth with late-life cortisol concentrations and glucose tolerance are modified by haplotypes of the glucocorticoid receptor gene. J Clin Endocrinol Metab 2006; 91:4544-4551. (Pubitemid 44833437)