Glükokortikoidreceptor gén szekvenciavariánsai és jelentoségük a glükokortikoidok iránti érzékenység meghatározásában

Translated title of the contribution: Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity

Judit Majnik, Attila Patócs, Katalin Balogh, Andrea Luczay, Dóra Török, Viktória Szabó, Gábor Borgulya, Péter Gergics, Ágnes Szappanos, Rita Bertalan, Boyle Belema, Judit Toke, Márta Sereg, Zoltán Zsolt Nagy, János Sólyom, Miklós Tóth, Edit Gláz, Károly Rácz, János Németh, György FeketeZsolt Tulassay

Research output: Contribution to journalReview article

Abstract

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 N3635 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.

Original languageHungarian
Pages (from-to)2107-2115
Number of pages9
JournalOrvosi hetilap
Volume147
Issue number44
Publication statusPublished - Nov 5 2006

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ASJC Scopus subject areas

  • Medicine(all)

Cite this

Majnik, J., Patócs, A., Balogh, K., Luczay, A., Török, D., Szabó, V., Borgulya, G., Gergics, P., Szappanos, Á., Bertalan, R., Belema, B., Toke, J., Sereg, M., Nagy, Z. Z., Sólyom, J., Tóth, M., Gláz, E., Rácz, K., Németh, J., ... Tulassay, Z. (2006). Glükokortikoidreceptor gén szekvenciavariánsai és jelentoségük a glükokortikoidok iránti érzékenység meghatározásában. Orvosi hetilap, 147(44), 2107-2115.