[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity].
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.
Majnik
Judit
J
Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika, Szentkirályi utca 46, 1088 Budapest. judit@majnik.hu
Patócs
Attila
A
Balogh
Katalin
K
Luczay
Andrea
A
Török
Dóra
D
Szabó
Viktória
V
Borgulya
Gábor
G
Gergics
Péter
P
Szappanos
Agnes
A
Bertalan
Rita
R
Belema
Boyle
B
Toke
Judit
J
Sereg
Márta
M
Nagy
Zoltán Zsolt
ZZ
Sólyom
János
J
Tóth
Miklós
M
Gláz
Edit
E
Rácz
Károly
K
Németh
János
J
Fekete
György
G
Tulassay
Zsolt
Z
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
D005938:Glucocorticoids; D020033:Protein Isoforms; D011965:Receptors, Glucocorticoid; D012694:Serine; D001216:Asparagine