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Please use this identifier to cite or link to this item: http://hdl.handle.net/1843/57629
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dc.creatorThais Ramos Villelapt_BR
dc.creatorCristina Botelho Barrapt_BR
dc.creatorAndré Rolim Belisáriopt_BR
dc.creatorMarcelo Rizzatti Luizonpt_BR
dc.creatorAna Cristina Simões e Silvapt_BR
dc.creatorIvani Novato Silvapt_BR
dc.date.accessioned2023-08-08T21:48:56Z-
dc.date.available2023-08-08T21:48:56Z-
dc.date.issued2017-07-21-
dc.citation.volume536pt_BR
dc.citation.issue111399pt_BR
dc.citation.spage1pt_BR
dc.citation.epage7pt_BR
dc.identifier.doihttps://doi.org/10.1016/j.mce.2021.111399pt_BR
dc.identifier.issn0303-7207pt_BR
dc.identifier.urihttp://hdl.handle.net/1843/57629-
dc.description.resumoBackground: Lifelong glucocorticoid (GC) replacement is the mainstay treatment of congenital adrenal hyper plasia (CAH) due to classic 21-hydroxylase deficiency (21-OHD). Challenges posed by therapeutic management of these patients are well known, but novel insights into the variability in clinical response to GC highlight a role for single nucleotide polymorphisms (SNPs) of the glucocorticoid receptor gene (NR3C1). Aim: To assess whether six commonly studied NR3C1 SNPs, which were previously associated with modified response to GC, are associated with CAH. We further assessed the linkage disequilibrium (LD) among these NR3C1 SNPs and their combination into haplotypes. Methods: Genotypes were determined by Taqman allele discrimination assays for Tth111I (rs10052957), ER22 (rs6189), 23 EK (rs6190), N363S (rs56149945), BclI (rs41423247) and 9β (rs6198) in a Brazilian cohort of 102 unrelated 21-OHD patients and 163 unrelated healthy subjects (controls). Haplotypes were estimated using Haplo.stats, and LD among SNPs using Haploview. Results: Heterozygous subjects for Tth111I were more frequent in 21-OHD patients (P = 0.004), while hetero zygous for BclI were more frequent in controls (P = 0.049). We found a strong LD among the six NR3C1 SNPs, and four out of six common haplotypes contained the Tth111I-variant. Although we found no significant dif ferences in overall haplotype analysis, the BclI-haplotype was less frequent among 21-OHD patients (P = 0.0180). Conclusions: BclI-haplotype was less common and heterozygous for Tth111I were more frequent in 21-OHD pa tients, while heterozygous for BclI were more frequent in controls. Our novel findings may contribute to further clinical studies on the prognostic value of NR3C1 haplotypes towards individualized treatment for 21-OHD patients.pt_BR
dc.format.mimetypepdfpt_BR
dc.languageengpt_BR
dc.publisherUniversidade Federal de Minas Geraispt_BR
dc.publisher.countryBrasilpt_BR
dc.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIApt_BR
dc.publisher.initialsUFMGpt_BR
dc.relation.ispartofMolecular and Cellular Endocrinology-
dc.rightsAcesso Restritopt_BR
dc.subjectCongenital adrenal hyperplasiapt_BR
dc.subjectgenetic polymorphismspt_BR
dc.subjectglucocorticoid receptor genept_BR
dc.subjecthaplotypespt_BR
dc.subjectnuclear receptor subfamily 3 group C member 1pt_BR
dc.subject.otherHiperplasia Suprarrenal Congênitapt_BR
dc.subject.otherReceptores de Glucocorticoidespt_BR
dc.subject.otherMembro 3 do Grupo F da Subfamília 1 de Receptores Nuclearespt_BR
dc.subject.otherPolimorfismo Genéticopt_BR
dc.subject.otherHaplótipospt_BR
dc.titleGlucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasiapt_BR
dc.typeArtigo de Periódicopt_BR
dc.url.externahttps://www.sciencedirect.com/science/article/pii/S0303720721002434?via%3Dihub-
dc.identifier.orcidhttps://orcid.org/0000-0003-4356-9806pt_BR
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