Hla-drb1 gene polymorphisms in pediatric patients with type 1 autoimmune hepatitis and type 1 autoimmune hepatitis overlap syndrome with autoimmune cholangitis

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dc.creatorMonique Ellen Gervásio Nunes
dc.creatorDaniela Valadão Rosa
dc.creatorEleonora Druve Tavares Fagundes
dc.creatorAlexandre Rodrigues Ferreira
dc.creatorDébora Marques de Miranda
dc.creatorPriscila Menezes Ferri Liu
dc.date.accessioned2023-07-28T22:46:56Z
dc.date.accessioned2025-09-09T00:23:43Z
dc.date.available2023-07-28T22:46:56Z
dc.date.issued2019
dc.format.mimetypepdf
dc.identifier.doihttps://doi.org/10.1590/S0004-2803.201900000-29
dc.identifier.issn16784219
dc.identifier.urihttps://hdl.handle.net/1843/57187
dc.languageeng
dc.publisherUniversidade Federal de Minas Gerais
dc.relation.ispartofArquivos de Gastroenterologia
dc.rightsAcesso Aberto
dc.subjectHepatite Autoimune
dc.subjectColangite Esclerosante
dc.subjectCadeias HLA-DRB1
dc.subject.otherAutoimmune hepatitis
dc.subject.otherSclerosing cholangitis
dc.subject.otherHLA-DRB1 chains
dc.subject.otherGenetic polimorphism
dc.titleHla-drb1 gene polymorphisms in pediatric patients with type 1 autoimmune hepatitis and type 1 autoimmune hepatitis overlap syndrome with autoimmune cholangitis
dc.title.alternativePolimorfismos do gene HLA-DRB1 em pacientes pediátricos com hepatite autoimune tipo 1 e hepatite autoimune associada à colangite autoimune
dc.typeArtigo de periódico
local.citation.epage150
local.citation.issue2
local.citation.spage146
local.citation.volume56
local.description.resumoABSTRACT – Background – Autoimmune hepatitis (AIH) is a rare chronic inflammatory liver disease associated with a loss of immunological tolerance to self-antigens. Susceptibility to AIH is partially determined by the presence of genes related to human leukocyte antigen (HLA), mainly allelic variants of DRB1. Objective – The purpose of this study was to investigate the frequencies of the polymorphisms in HLA-DRB1 gene in children and adolescents with type 1 AIH and type 1 AIH overlap syndrome with autoimmune cholangitis (overlap syndrome, OS) in comparison to healthy sex and age-matched individuals (control group). Methods – This is a cross-sectional study of 25 pediatric patients diagnosed with type 1 AIH and 18 with OS. Fifty-seven healthy individuals were included as controls. The polymorphisms of the HLA-DRB1 gene were evaluated by PCR and included HLA-DRB1*03, HLA-DRB1*04, HLA-DRB1*07, and HLA-DRB1*13. Results – Our results showed that the presence of the allele HLA-DRB1*13increased the chance of autoimmune cholangitis (OR=3.96, CI 1.07 to 14.61, P=0.04). The HLA-DRB1*04 and HLA- DRB1*07 have no association with the AIH and autoimmune cholangitis in a young sample. Conclusion – This work demonstrates an association of the main polymorphisms in the HLA-DRB1 gene to AIH with or without cholangitis in a Brazilian sample
local.publisher.countryBrasil
local.publisher.departmentMED - DEPARTAMENTO DE PEDIATRIA
local.publisher.initialsUFMG
local.url.externahttps://www.scielo.br/j/ag/a/VgYygfRYTPyQKMFP8qRPqZf/?lang=en

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LA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS pdfa.pdf
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