Influence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorMOREIRA, Ricardo P. P.
dc.contributor.authorGOMES, Larissa G.
dc.contributor.authorMADUREIRA, Guiomar
dc.contributor.authorMENDONCA, Berenice B.
dc.contributor.authorBACHEGA, Tania A. S. S.
dc.date.accessioned2014-09-30T14:38:14Z
dc.date.available2014-09-30T14:38:14Z
dc.date.issued2014
dc.description.abstractBackground. Pediatric CAH patients have an increased risk of cardiovascular disease, and it remains unknown if genetic predisposition is a contributing factor. Glucocorticoid receptor gene (NR3C1) polymorphisms are associated with an adverse metabolic profile. Our aim was to analyze the association between the NR3C1 polymorphisms and the metabolic profile of pediatric CAH patients. Methods. Forty-one patients (26SW/15SV) received glucocorticoid (GC) replacement therapy to achieve normal androgen levels. Obesity was defined by BMI >= 95th percentile. NR3C1 alleles were genotyped, and association analyses with phenotype were done with Chi-square, t-test, and multivariate and regression analysis. Results. Obesity was observed in 31.7% of patients and was not correlated with GC doses and treatment duration. Z-score BMI was positively correlated with blood pressure, triglycerides, LDL-c levels, and HOMA-IR. NR3C1 polymorphisms, BclI and A3669G, were found in 23.1% and 9.7% of alleles, respectively. A3669G carriers presented higher LDL-c levels compared to wild-type subjects. BclI-carriers and noncarriers did not differ. Conclusion. Our results suggest that A3669G-polymorphism could be involved with a susceptibility to adverse lipid profile in pediatric CAH patients. This study provides new insight into the GR screening during CAH treatment, which could help to identify the subgroup of at-risk patients who would most benefit from preventive therapeutic action.
dc.description.indexPubMed
dc.description.sponsorshipFAPESP [09/54238- 2]
dc.description.sponsorshipMoreira RPP
dc.description.sponsorshipFundacao deAmparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2009/54394-4]
dc.description.sponsorshipBachega TASS by Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [308318/2012-9]
dc.description.sponsorshipMendonca BB by CNPq [305743/2011-2]
dc.identifier.citationINTERNATIONAL JOURNAL OF ENDOCRINOLOGY, article ID 594710, 6p, 2014
dc.identifier.doi10.1155/2014/594710
dc.identifier.eissn1687-8345
dc.identifier.issn1687-8337
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/7378
dc.language.isoeng
dc.publisherHINDAWI PUBLISHING CORPORATION
dc.relation.ispartofInternational Journal of Endocrinology
dc.rightsopenAccess
dc.rights.holderCopyright HINDAWI PUBLISHING CORPORATION
dc.subject.other21-hydroxylase deficiency
dc.subject.otherchildren
dc.subject.otherobesity
dc.subject.otherrisk
dc.subject.otheradolescents
dc.subject.otherresistance
dc.subject.otheroptimize
dc.subject.otherlife
dc.subject.wosEndocrinology & Metabolism
dc.titleInfluence of the A3669G Glucocorticoid Receptor Gene Polymorphism on the Metabolic Profile of Pediatric Patients with Congenital Adrenal Hyperplasia
dc.typearticle
dc.type.categoryoriginal article
dc.type.versionpublishedVersion
dspace.entity.typePublication
hcfmusp.citation.scopus10
hcfmusp.contributor.author-fmusphcRICARDO PARANHOS PIRES MOREIRA
hcfmusp.contributor.author-fmusphcLARISSA GARCIA GOMES
hcfmusp.contributor.author-fmusphcGUIOMAR MADUREIRA
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.contributor.author-fmusphcTANIA APARECIDA SARTORI SANCHEZ BACHEGA
hcfmusp.description.articlenumber594710
hcfmusp.origemWOS
hcfmusp.origem.pubmed25050120
hcfmusp.origem.scopus2-s2.0-84904213983
hcfmusp.origem.wosWOS:000338527300001
hcfmusp.publisher.cityNEW YORK
hcfmusp.publisher.countryUSA
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hcfmusp.remissive.sponsorshipCNPq
hcfmusp.remissive.sponsorshipFAPESP
hcfmusp.scopus.lastupdate2024-05-17
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