Single nucleotide polymorphisms and type of steroid impact the functional response of the human glucocorticoid receptor

J Surg Res. 2013 Mar;180(1):27-34. doi: 10.1016/j.jss.2012.12.027. Epub 2013 Jan 7.

Abstract

Background: Clinical trials evaluating the use of steroids in septic shock have shown variable outcomes. Our previous studies have implicated human glucocorticoid receptor (hGR) polymorphisms as a possible cause of altered steroid response. To further evaluate this variability, we hypothesized that hGR polymorphisms along with type of steroid influence the functional response.

Methods: Total RNA was isolated from healthy human blood samples and surveyed for the hGR gene. The National Center for Biotechnology Information hGRα sequence was used as a reference, and two unique single nucleotide polymorphisms (SNPs) (A214G and T962C) were selected for evaluation. Functional response was measured using a luciferase reporting assay after transfecting hGR isoforms into tsA201 cells and stimulation with graded concentrations of hydrocortisone (HYD), methylprednisolone (MPS), and dexamethasone (DEX).

Results: Each isoform had a unique dose-response curve with the optimal activity depending on concentration and type of steroid. The presence of either SNP A214G or T962C resulted in a decreased response when compared with hGRα when stimulated with HYD (P < 0.01). The same decreased response occurred for the SNPs with DEX stimulation, but at a much lower concentration range than HYD (P < 0.01). However, in the presence of MPS, SNP A214G resulted in greater activity when compared with hGRα (P < 0.01), whereas the presence of T962C resulted in activity equivalent to hGRα.

Conclusions: SNPs, type of steroid, and concentration range impact the functional response of the hGR. A greater understanding of hGR polymorphisms and steroid response may further elucidate mechanisms explaining the variable response seen with patient treatment.

MeSH terms

  • Adult
  • Aged
  • Dexamethasone / pharmacology
  • Dose-Response Relationship, Drug
  • Female
  • Humans
  • Hydrocortisone / pharmacology
  • Male
  • Methylprednisolone / pharmacology
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Protein Isoforms
  • Receptors, Glucocorticoid / genetics*
  • Receptors, Glucocorticoid / physiology
  • Shock, Septic / drug therapy

Substances

  • Protein Isoforms
  • Receptors, Glucocorticoid
  • Dexamethasone
  • Hydrocortisone
  • Methylprednisolone