title: Pregnane X receptor polymorphisms associated with human diseases.
abstract: BACKGROUND
  Pregnane X receptor (PXR) belongs to the nuclear hormone receptor superfamily and is mostly expressed in liver and intestine. PXR is activated by a wide range of compounds, including drugs, and regulates the transcription of numerous metabolic enzymes implicated in cellular response to xenobiotics. Genetic variation in the PXR gene may influence a wide range of physiologic pathways and have widespread effects on the pharmacokinetics of many drugs. In addition, PXR polymorphisms have been associated with both benign and malignant disease states, in terms of disease risk and severity, gene expression and drug clearance.
  
  
  METHODS
  The aim of the present review is to assess the significance of PXR polymorphisms in human diseases and their putative therapeutic perspectives. To this end, all the existing English literature concerning PXR polymorphisms in relation to disease risk and severity, as well as treatment response, is summarized and presented.
  
  
  CONCLUSIONS
  The importance of PXR polymorphisms lies both in their prognostic value and their exploitation for improved individualized therapeutic approaches. PXR polymorphisms could be implicated in selective drug targeting leading to PXR modulation. Nevertheless, additional studies are required to fully understand their potential.
authors.affiliation: Medical School, National and Kapodistrian University of Athens, First Department of Pathology , 75, Mikras Asias street, Goudi, Athens, 11527 , Greece theocharis@ath.forthnet.gr.
authors.forename: Ioly
authors.initials: I
authors.lastname: Kotta-Loizou
authors.forename: Efstratios
authors.initials: E
authors.lastname: Patsouris
authors.forename: Stamatios
authors.initials: S
authors.lastname: Theocharis
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics; D001471:Barrett Esophagus / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000235:genetics; D008107:Liver Diseases / Q000235:genetics; D009369:Neoplasms / Q000235:genetics; D011110:Polymorphism, Genetic; D000077297:Pregnane X Receptor; D011987:Receptors, Steroid / Q000235:genetics*
chemical_list: D000077297:Pregnane X Receptor; D011987:Receptors, Steroid