title: A polymorphism in the promoter region of the glucocorticoid receptor gene is associated with its transcriptional activity.
abstract: Since glucocorticoid exerts its biological effects by binding to its receptor, the expression efficiency of the glucocorticoid receptor (GR) gene could influence glucocorticoid sensitivity. We found a polymorphism of cytosine/adenine (-22 C/A) in the upstream region of the GR gene. There was no difference in the allelic frequency between normal and type 2 diabetic subjects. The promoter activity determined by luciferase assay was significantly lower in the -22 A allele than in the -22 C allele in both HepG2 (A allele, 4.19 +/- 0.15; C allele, 6.07 +/- 0.27, p < 0.001) and human embryonic kidney 293 cell lines (A allele, 0.93 +/- 0.16; C allele, 1.51 +/- 0.32, p < 0.001). This polymorphism is associated with transcription of the CR gene, which could be related to glucocorticoid sensitivity through an alteration in tissue GR number.
authors.affiliation: Second Department of Internal Medicine, Kochi Medical School, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ikeda
authors.forename: T
authors.initials: T
authors.lastname: Suehiro
authors.forename: S
authors.initials: S
authors.lastname: Tsuzura
authors.forename: T
authors.initials: T
authors.lastname: Shiinoki
authors.forename: T
authors.initials: T
authors.lastname: Kaneda
authors.forename: Y
authors.initials: Y
authors.lastname: Kumon
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
mesh_terms: D000328:Adult; D001483:Base Sequence; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D011401:Promoter Regions, Genetic; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic / Q000235:genetics*; D014407:Tumor Cells, Cultured
chemical_list: D011965:Receptors, Glucocorticoid