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Genetics and Molecular Biology

Print version ISSN 1415-4757


PINCERATI, Márcia Regina; DALLA-COSTA, Ricardo  and  PETZL-ERLER, Maria Luiza. CTLA4 CT60 gene polymorphism is not associated with differential susceptibility to pemphigus foliaceus. Genet. Mol. Biol. [online]. 2010, vol.33, n.3, pp.442-444.  Epub July 23, 2010. ISSN 1415-4757.

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.

Keywords : CTLA4; CT60 polymorphism; pemphigus; fogo selvagem; autoimmunity.

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