title: [Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity].
abstract: Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity. The physiologic response and sensitivity to glucocorticoids may significantly differ among species, individuals, tissues and cell types. The variability of the effect of endogenous and exogenous glucocorticoids is largely determined by genetic components, of which the authors review the knowledge on the glucocorticoid receptor gene. The authors describe the genomic and non-genomic pathways of receptor function, the significance of isoforms produced during receptor protein formation, the pathomechanism of glucocorticoid resistance syndrome and the results of clinical investigations related to receptor gene polymorphisms. Through subtle alteration of receptor function, the gene polymorphisms may increase or diminish sensitivity to glucocorticoids and may play a role in the pathogenesis of metabolic disorders. In their own studies the authors found, that the N363S polymorphism, which increases glucocorticoid sensitivity, may play a role in the pathogenesis of bilateral adrenal adenomas, it may modify the clinical phenotype of patients with congenital adrenal hyperplasia, and may have an impact on steroid-induced ocular hypertension. It is presumed that further research in other diseases will continue to complete our knowledge on the pathophysiology of glucocorticoid receptor gene polymorphisms.
authors.affiliation: Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Szentkirályi utca 46, 1088 Budapest. judit@majnik.hu
authors.forename: Judit
authors.initials: J
authors.lastname: Majnik
authors.forename: Attila
authors.initials: A
authors.lastname: Patócs
authors.forename: Katalin
authors.initials: K
authors.lastname: Balogh
authors.forename: Andrea
authors.initials: A
authors.lastname: Luczay
authors.forename: Dóra
authors.initials: D
authors.lastname: Török
authors.forename: Viktória
authors.initials: V
authors.lastname: Szabó
authors.forename: Gábor
authors.initials: G
authors.lastname: Borgulya
authors.forename: Péter
authors.initials: P
authors.lastname: Gergics
authors.forename: Agnes
authors.initials: A
authors.lastname: Szappanos
authors.forename: Rita
authors.initials: R
authors.lastname: Bertalan
authors.forename: Boyle
authors.initials: B
authors.lastname: Belema
authors.forename: Judit
authors.initials: J
authors.lastname: Toke
authors.forename: Márta
authors.initials: M
authors.lastname: Sereg
authors.forename: Zoltán Zsolt
authors.initials: ZZ
authors.lastname: Nagy
authors.forename: János
authors.initials: J
authors.lastname: Sólyom
authors.forename: Miklós
authors.initials: M
authors.lastname: Tóth
authors.forename: Edit
authors.initials: E
authors.lastname: Gláz
authors.forename: Károly
authors.initials: K
authors.lastname: Rácz
authors.forename: János
authors.initials: J
authors.lastname: Németh
authors.forename: György
authors.initials: G
authors.lastname: Fekete
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Tulassay
mesh_terms: D000236:Adenoma / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D001216:Asparagine; D001483:Base Sequence; D005260:Female; D005938:Glucocorticoids / Q000378:metabolism*; D006801:Humans; D054018:Lasers, Excimer; D008297:Male; D009154:Mutation; D009798:Ocular Hypertension / Q000139:chemically induced / Q000235:genetics / Q000378:metabolism / Q000601:surgery; D010641:Phenotype; D018903:Photorefractive Keratectomy; D011110:Polymorphism, Genetic; D020033:Protein Isoforms; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D012189:Retrospective Studies; D012694:Serine
chemical_list: D005938:Glucocorticoids; D020033:Protein Isoforms; D011965:Receptors, Glucocorticoid; D012694:Serine; D001216:Asparagine