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Association of BclI polymorphism of the glucocorticoid receptor gene locus with response to glucocorticoids in inflammatory bowel disease
  1. Sara De Iudicibus1,
  2. Gabriele Stocco1,
  3. Stefano Martelossi2,
  4. Ilenia Drigo3,
  5. Stefania Norbedo4,
  6. Paolo Lionetti5,
  7. Elena Pozzi5,
  8. Arrigo Barabino6,
  9. Giuliana Decorti7,
  10. Fiora Bartoli8,
  11. Alessandro Ventura8
  1. 1Department of Biomedical Sciences, University of Trieste, and Department of Reproductive and Developmental Sciences and IRCCS, Istituto per I’Infanzia Burlo Garofolo, Clinica Pediatrica, Trieste, Italy
  2. 2Department of Reproductive and Developmental Sciences and IRCCS, Istituto per I’Infanzia Burlo Garofolo, Clinica Pediatrica, Trieste, Italy
  3. 3Department of Biomedical Sciences, University of Trieste, and Department of Reproductive and Developmental Sciences and IRCCS, Istituto per L’Infanzia Burlo Garofolo, Clinica Pediatrica, Trieste, Italy
  4. 4Department of Reproductive and Developmental Sciences and IRCCS, Istituto per I’Infanzia Burlo Garofolo, Clinica Pediatrica, Trieste, Italy
  5. 5Research Children’s Hospital ‘Meyer’, Florence, Italy
  6. 6Research Children’s Hospital ‘Gaslini’, Genoa, Italy
  7. 7Department of Biomedical Sciences, University of Trieste, Italy
  8. 8Department of Reproductive and Developmental Sciences and IRCCS, Istituto per I’Infanzia Burlo Garofolo, Clinica Pediatrica, Trieste, Italy
  1. Correspondence to:
    Dr Giuliana Decorti
    Department of Biomedical Sciences, University of Trieste, Via L Giorgieri 7, 9, 34127 Trieste, Italy; decorti{at}units.it

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Glucocorticoids (GCs) are immunosuppressive drugs used for the acute treatment of patients with moderate to severe inflammatory bowel disease (IBD),1 but interindividual variability in the response to these agents is frequently observed.2 GCs diffuse freely into cells and bind to an intracellular receptor (hGR/NR3C1), so the sensitivity to these drugs may depend on the receptor number and affinity or on their availability to the receptors, and transport proteins (including P-glycoprotein (Pgp) encoded by the MDR1/ABCB1 gene) can modify their intracellular concentration.3,4 Polymorphisms in the hGR and MDR1 genes have been described in different populations and may contribute to the variability in sensitivity to GCs observed in the clinical setting.3,4

A study was conducted to estimate the impact of genetic variations in hGR and MDR1 genes on the efficacy and individual response to GCs in young patients with IBD. Polymorphisms of the hGR gene (BclI and N363S which are related to GC hypersensitivity and ER22/23EK which is associated with relative resistance to GCs5) and the MDR1 gene (C3435T and G2677T which are associated with changes in Pgp expression and activity6) were studied in 119 young patients …

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