CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Outros Autores: | , |
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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Genetics and Molecular Biology |
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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 |
_version_ |
1752122383304491008 |