CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus

Detalhes bibliográficos
Autor(a) principal: Pincerati,Márcia Regina
Data de Publicação: 2010
Outros Autores: Dalla-Costa,Ricardo, Petzl-Erler,Maria Luiza
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300008
Resumo: Pemphigus foliaceus is an organ-specific autoimmune disease characterized by autoantibodies against the extracellular region of desmoglein 1, a protein that mediates intercellular adhesion in desmosomes. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is a key negative regulator of the T cell immune response, playing an important role in T cell homeostasis and maintenance of peripheral tolerance. Polymorphisms in the CTLA4 gene have been associated with autoimmune diseases and the functional CT60 single nucleotide polymorphism (rs3087243, also named 6230G > A) has been proposed to be a casual variant in several of these diseases. The aim of this study was to ascertain whether this polymorphism is associated with inter-individual variation in susceptibility to pemphigus foliaceus. The population sample in this case-control association study comprised 248 patient and 367 controls. We did not found a significant association of pemphigus foliaceus with the CT60 variants. We conclude that the CTLA4 CT60 polymorphism is not an important factor for pemphigus foliaceus pathogenesis in the population analyzed.
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spelling CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceusCTLA4CT60 polymorphismpemphigusfogo selvagemautoimmunityPemphigus foliaceus is an organ-specific autoimmune disease characterized by autoantibodies against the extracellular region of desmoglein 1, a protein that mediates intercellular adhesion in desmosomes. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is a key negative regulator of the T cell immune response, playing an important role in T cell homeostasis and maintenance of peripheral tolerance. Polymorphisms in the CTLA4 gene have been associated with autoimmune diseases and the functional CT60 single nucleotide polymorphism (rs3087243, also named 6230G > A) has been proposed to be a casual variant in several of these diseases. The aim of this study was to ascertain whether this polymorphism is associated with inter-individual variation in susceptibility to pemphigus foliaceus. The population sample in this case-control association study comprised 248 patient and 367 controls. We did not found a significant association of pemphigus foliaceus with the CT60 variants. We conclude that the CTLA4 CT60 polymorphism is not an important factor for pemphigus foliaceus pathogenesis in the population analyzed.Sociedade Brasileira de Genética2010-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300008Genetics and Molecular Biology v.33 n.3 2010reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572010005000073info:eu-repo/semantics/openAccessPincerati,Márcia ReginaDalla-Costa,RicardoPetzl-Erler,Maria Luizaeng2010-08-18T00:00:00Zoai:scielo:S1415-47572010000300008Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2010-08-18T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
title CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
spellingShingle CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
Pincerati,Márcia Regina
CTLA4
CT60 polymorphism
pemphigus
fogo selvagem
autoimmunity
title_short CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
title_full CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
title_fullStr CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
title_full_unstemmed CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
title_sort CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
author Pincerati,Márcia Regina
author_facet Pincerati,Márcia Regina
Dalla-Costa,Ricardo
Petzl-Erler,Maria Luiza
author_role author
author2 Dalla-Costa,Ricardo
Petzl-Erler,Maria Luiza
author2_role author
author
dc.contributor.author.fl_str_mv Pincerati,Márcia Regina
Dalla-Costa,Ricardo
Petzl-Erler,Maria Luiza
dc.subject.por.fl_str_mv CTLA4
CT60 polymorphism
pemphigus
fogo selvagem
autoimmunity
topic CTLA4
CT60 polymorphism
pemphigus
fogo selvagem
autoimmunity
description Pemphigus foliaceus is an organ-specific autoimmune disease characterized by autoantibodies against the extracellular region of desmoglein 1, a protein that mediates intercellular adhesion in desmosomes. Cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) is a key negative regulator of the T cell immune response, playing an important role in T cell homeostasis and maintenance of peripheral tolerance. Polymorphisms in the CTLA4 gene have been associated with autoimmune diseases and the functional CT60 single nucleotide polymorphism (rs3087243, also named 6230G > A) has been proposed to be a casual variant in several of these diseases. The aim of this study was to ascertain whether this polymorphism is associated with inter-individual variation in susceptibility to pemphigus foliaceus. The population sample in this case-control association study comprised 248 patient and 367 controls. We did not found a significant association of pemphigus foliaceus with the CT60 variants. We conclude that the CTLA4 CT60 polymorphism is not an important factor for pemphigus foliaceus pathogenesis in the population analyzed.
publishDate 2010
dc.date.none.fl_str_mv 2010-01-01
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=S1415-47572010000300008
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300008
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572010005000073
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 Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.33 n.3 2010
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
instacron:SBG
instname_str Sociedade Brasileira de Genética (SBG)
instacron_str SBG
institution SBG
reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
repository.mail.fl_str_mv ||editor@gmb.org.br
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