dc.contributor.author | Doleschall Márton | |
dc.contributor.author | Szabo JA | |
dc.contributor.author | Pazmandi J | |
dc.contributor.author | Szilágyi Ágnes | |
dc.contributor.author | Koncz Klára | |
dc.contributor.author | Farkas Henriette | |
dc.contributor.author | Tóth Miklós | |
dc.contributor.author | Igaz Péter | |
dc.contributor.author | Gláz Edit | |
dc.contributor.author | Prohászka Zoltán | |
dc.contributor.author | Korbonits M | |
dc.contributor.author | Rácz Károly | |
dc.contributor.author | Füst György | |
dc.contributor.author | Patócs Attila Balázs | |
dc.date.accessioned | 2014-09-12T14:06:01Z | |
dc.date.available | 2014-09-12T14:06:01Z | |
dc.date.issued | 2014 | |
dc.identifier.citation | pagination=e107244; journalVolume=9; journalIssueNumber=9; journalTitle=PLOS ONE; | |
dc.identifier.uri | http://repo.lib.semmelweis.hu//handle/123456789/393 | |
dc.identifier.uri | doi:10.1371/journal.pone.0107244 | |
dc.description.abstract | PURPOSE: Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels. METHODS: The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were studied in 106 subjects with non-functioning adrenal incidentaloma (NFAI). The rationale for using NFAI subjects is dual: i) their baseline hormone profiles do not differ from those of healthy subjects and ii) hormone levels after stimulation tests are available. RESULTS: The carriers (N = 27) of a well-defined CYP21A2 haplotype cluster (c5) had significantly elevated levels of cortisol (p = 0.0110), and 17-hydroxyprogesterone (p = 0.0001) after ACTH stimulation, and 11-deoxycortisol after metyrapone administration (p = 0.0017), but the hormone values were in normal ranges. In addition, the carriers (N = 33) of the C allele of the rs6462 polymorphism had a higher baseline aldosterone level (p = 0.0006). The prevalence of these genetic variants of CYP21A2 did not differ between NFAI and healthy subjects. CONCLUSIONS: The common CYP21A2 variants presumably exert the same effect on hormone levels in the healthy and disease-affected populations. Therefore, they may contribute to complex diseases such as some cardiovascular diseases, and may influence the genotype-phenotype correlation in patients with congenital adrenal hyperplasia (CAH) including the individual need for hormone substitution. | |
dc.relation.ispartof | urn:issn:1932-6203 | |
dc.title | Common Genetic Variants of the Human Steroid 21-Hydroxylase Gene (CYP21A2) Are Related to Differences in Circulating Hormone Levels. | |
dc.type | Journal Article | |
dc.date.updated | 2014-09-12T13:36:04Z | |
dc.language.rfc3066 | en | |
dc.identifier.mtmt | 2731717 | |
dc.identifier.pubmed | 25210767 | |
dc.contributor.department | SE/ÁOK/K/IISZBK/MTA-SE Lendület Örökletes Endokrin Daganatok Kutatócsoport | |
dc.contributor.department | SE/ÁOK/K/IISZBK/MTA-SE Molekuláris Medicina Kutatócsoport (2006-ig: MTA-SE Gastroenterológiai és Endocrinológiai Kutatócsoport) | |
dc.contributor.department | SE/ÁOK/K/II. Sz. Belgyógyászati Klinika | |
dc.contributor.department | SE/ÁOK/K/III. Sz. Belgyógyászati Klinika | |
dc.contributor.institution | Semmelweis Egyetem |