Glucocorticoid resistance in Crohn's disease and ulcerative colitis: An association study investigating GR and FKBP5 gene polymorphisms

P. Maltese, L. Palma, C. Sfara, P. De Rocco, A. Latiano, O. Palmieri, G. Corritore, V. Annese, M. Magnani

Research output: Contribution to journalArticlepeer-review

Abstract

The aim of this study is to investigate the role of single-nucleotide polymorphisms (SNPs) of the glucocorticoid receptor (GR) and of the related co-chaperone FKBP5 genes in the development of glucocorticoid (GC) resistance in Crohn's disease (CD) and ulcerative colitis (UC) patients. We have developed a high-resolution DNA melting method that allows simultaneous identification of GR (BclI, N363S and ER22/23EK) and FKBP5 (rs3800373, rs1360780 and rs4713916) polymorphisms. Genotype frequencies were determined in 100 consecutive CD and 100 UC patients under GCs therapy (50 responders and 50 resisters). The variation of FKBP5 polymorphism rs4713916 (G/A), in the putative promoter region of FKBP5, is significantly associated with resistance to GC treatment in CD (responder=17% versus resister=35%; P=0.0043). No significant differences were found in UC patients. If these preliminary findings will be confirmed, the combination of GR and FKBP5 mutational analyses could help to identify subgroups of CD patients with higher chances to benefit from GC treatment.

Original languageEnglish
Pages (from-to)432-438
Number of pages7
JournalPharmacogenomics Journal
Volume12
Issue number5
DOIs
Publication statusPublished - Oct 2012

Keywords

  • FKBP5
  • glucocorticoid receptor
  • glucocorticoid therapy
  • inflammatory bowel disease
  • single-nucleotide polymorphisms

ASJC Scopus subject areas

  • Pharmacology
  • Molecular Medicine
  • Genetics

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