HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS

Detalhes bibliográficos
Autor(a) principal: NUNES,Monique Ellen Gervásio
Data de Publicação: 2019
Outros Autores: ROSA,Daniela Valadão, FAGUNDES,Eleonora Druve Tavares, FERREIRA,Alexandre Rodrigues, MIRANDA,Débora Marques de, FERRI LIU,Priscila Menezes
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Arquivos de gastroenterologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032019000200146
Resumo: ABSTRACT 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*13 increased 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.
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spelling HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITISAutoimmune hepatitesSclerosing cholangitisHLA-DRB1 chainsGenetic polimorphismABSTRACT 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*13 increased 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.Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE. 2019-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032019000200146Arquivos de Gastroenterologia v.56 n.2 2019reponame:Arquivos de gastroenterologia (Online)instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiainstacron:IBEPEGE10.1590/s0004-2803.201900000-29info:eu-repo/semantics/openAccessNUNES,Monique Ellen GervásioROSA,Daniela ValadãoFAGUNDES,Eleonora Druve TavaresFERREIRA,Alexandre RodriguesMIRANDA,Débora Marques deFERRI LIU,Priscila Menezeseng2019-09-26T00:00:00Zoai:scielo:S0004-28032019000200146Revistahttp://www.scielo.br/aghttps://old.scielo.br/oai/scielo-oai.php||secretariaarqgastr@hospitaligesp.com.br1678-42190004-2803opendoar:2019-09-26T00:00Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologiafalse
dc.title.none.fl_str_mv HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
title HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
spellingShingle HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
NUNES,Monique Ellen Gervásio
Autoimmune hepatites
Sclerosing cholangitis
HLA-DRB1 chains
Genetic polimorphism
title_short HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
title_full HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
title_fullStr HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
title_full_unstemmed HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
title_sort HLA-DRB1 GENE POLYMORPHISMS IN PEDIATRIC PATIENTS WITH TYPE 1 AUTOIMMUNE HEPATITIS AND TYPE 1 AUTOIMMUNE HEPATITIS OVERLAP SYNDROME WITH AUTOIMMUNE CHOLANGITIS
author NUNES,Monique Ellen Gervásio
author_facet NUNES,Monique Ellen Gervásio
ROSA,Daniela Valadão
FAGUNDES,Eleonora Druve Tavares
FERREIRA,Alexandre Rodrigues
MIRANDA,Débora Marques de
FERRI LIU,Priscila Menezes
author_role author
author2 ROSA,Daniela Valadão
FAGUNDES,Eleonora Druve Tavares
FERREIRA,Alexandre Rodrigues
MIRANDA,Débora Marques de
FERRI LIU,Priscila Menezes
author2_role author
author
author
author
author
dc.contributor.author.fl_str_mv NUNES,Monique Ellen Gervásio
ROSA,Daniela Valadão
FAGUNDES,Eleonora Druve Tavares
FERREIRA,Alexandre Rodrigues
MIRANDA,Débora Marques de
FERRI LIU,Priscila Menezes
dc.subject.por.fl_str_mv Autoimmune hepatites
Sclerosing cholangitis
HLA-DRB1 chains
Genetic polimorphism
topic Autoimmune hepatites
Sclerosing cholangitis
HLA-DRB1 chains
Genetic polimorphism
description ABSTRACT 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*13 increased 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.
publishDate 2019
dc.date.none.fl_str_mv 2019-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032019000200146
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-28032019000200146
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/s0004-2803.201900000-29
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE.
publisher.none.fl_str_mv Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia e Outras Especialidades - IBEPEGE.
dc.source.none.fl_str_mv Arquivos de Gastroenterologia v.56 n.2 2019
reponame:Arquivos de gastroenterologia (Online)
instname:Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia
instacron:IBEPEGE
instname_str Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia
instacron_str IBEPEGE
institution IBEPEGE
reponame_str Arquivos de gastroenterologia (Online)
collection Arquivos de gastroenterologia (Online)
repository.name.fl_str_mv Arquivos de gastroenterologia (Online) - Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia
repository.mail.fl_str_mv ||secretariaarqgastr@hospitaligesp.com.br
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