title: Frequencies of Bcl I, E22E, and N363S of h-GR/NR3C1 restriction fragment length polymorphisms of glucocorticoid receptor gene in Polish adult population.
abstract: BACKGROUND
  Polymorphism of the gene encoding the glucocorticoid receptor - h-GR/NR3C1 demonstrates close genetic and biochemical correlation with etiopathogenesis of metabolic, cardiovascular, hematologic, and mental disorders. The natural variability of DNA sequence within the h-GR gene affects both the conformation and the activity of glucocorticoid receptors. Modifications of the amino acid receptor structure give rise to disturbances of the receptor-hormone complex interaction with many genes responsible for normal cellular function. Transactivation, or transrepression, of the genes encoding proteins synthesized within the framework of cellular response to glucocorticosteroids is 1 among many molecular pathways leading to the development of resistance to anti-inflammatory drugs.
  
  
  METHODS
  A group of 70 healthy participants, with no history of asthma or atopic conditions, qualified for the study. Genotyping was accomplished using PCR-RFLP method.
  
  
  RESULTS
  In healthy, nonatopic population, within the h-GR gene promoter, a polymorphism of Bcl I: GG, GC, and CC occurring with 0.129/0.471/0.40 frequency, were identified. Two polymorphisms were identified in exon 2 at 1220 and 198 position in the h-GR gene: N363S (AA, AG occurring with 0.9/0.1 frequency) and ER22/23EK (GG, GC occurring with 0.843/0.157 frequency).
  
  
  CONCLUSIONS
  The frequency of polymorphisms occurring within the h-GR gene has not been assessed to date in the Polish population. The present study is the first attempt of such estimation. The study is an introduction to more-detailed analysis of the correlation between the occurrence of h-GR gene polymorphisms, and the development of severe, steroid-resistant bronchial asthma.
authors.affiliation: Department of Pneumology and Allergology, Medical University of Lodz, Lodz, Poland.
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Pietras
authors.forename: Michal
authors.initials: M
authors.lastname: Panek
authors.forename: Izabela
authors.initials: I
authors.lastname: Kuprys-Lipinska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Oszajca
authors.forename: Radoslaw
authors.initials: R
authors.lastname: Wujcik
authors.forename: Piotr
authors.initials: P
authors.lastname: Kuna
authors.forename: Pawel
authors.initials: P
authors.lastname: Gorski
authors.forename: Janusz
authors.initials: J
authors.lastname: Szemraj
mesh_terms: D000328:Adult; D001483:Base Sequence; D004351:Drug Resistance / Q000187:drug effects; D005260:Female; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D011044:Poland; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D011965:Receptors, Glucocorticoid / Q000235:genetics*
chemical_list: C497713:NR3C1 protein, human; D011965:Receptors, Glucocorticoid