Glucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia

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dc.creatorThais Ramos Villela
dc.creatorCristina Botelho Barra
dc.creatorAndré Rolim Belisário
dc.creatorMarcelo Rizzatti Luizon
dc.creatorAna Cristina Simões e Silva
dc.creatorIvani Novato Silva
dc.date.accessioned2023-08-08T21:48:56Z
dc.date.accessioned2025-09-08T22:52:29Z
dc.date.available2023-08-08T21:48:56Z
dc.date.issued2017-07-21
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1016/j.mce.2021.111399
dc.identifier.issn0303-7207
dc.identifier.urihttps://hdl.handle.net/1843/57629
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofMolecular and Cellular Endocrinology
dc.rightsAcesso Restrito
dc.subjectHiperplasia Suprarrenal Congênita
dc.subjectReceptores de Glucocorticoides
dc.subjectMembro 3 do Grupo F da Subfamília 1 de Receptores Nucleares
dc.subjectPolimorfismo Genético
dc.subjectHaplótipos
dc.subject.otherCongenital adrenal hyperplasia
dc.subject.othergenetic polymorphisms
dc.subject.otherglucocorticoid receptor gene
dc.subject.otherhaplotypes
dc.subject.othernuclear receptor subfamily 3 group C member 1
dc.titleGlucocorticoid receptor Gene (NR3C1) Polymorphisms and Haplotypes in patients with congenital adrenal hyperplasia
dc.typeArtigo de periódico
local.citation.epage7
local.citation.issue111399
local.citation.spage1
local.citation.volume536
local.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.
local.identifier.orcidhttps://orcid.org/0000-0003-4356-9806
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://www.sciencedirect.com/science/article/pii/S0303720721002434?via%3Dihub

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