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

Genetics and Molecular Biology

Márcia Regina Pincerati¹  Ricardo Dalla-costa¹  Maria Luiza Petzl-erler¹ 

[1],Universidade Federal do Paraná Departamento de Genética Laboratório de Genética Molecular HumanaCuritiba PR ,Brazil

关键词: CTLA4;    CT60 polymorphism;    pemphigus;    fogo selvagem;    autoimmunity;   

DOI  :  10.1590/S1415-47572010005000073

来源: SciELO

【 摘 要 】

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.

【 授权许可】

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