| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus
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| Autores: |
Pincerati,Márcia Regina
Dalla-Costa,Ricardo
Petzl-Erler,Maria Luiza
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| Data: |
2010-01-01
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| Ano: |
2010
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| Palavras-chave: |
CTLA4
CT60 polymorphism
Pemphigus
Fogo selvagem
Autoimmunity
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| 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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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300008
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572010005000073
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.33 n.3 2010
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| Direitos: |
info:eu-repo/semantics/openAccess
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