Abstract
Two polymorphic markers were identified on the desmoglein 1 gene which encodes the autoantigen targeted by pathogenic antibodies in pemphigus foliaceus (PF), a cutaneous autoimmune blistering disease. The first marker, made of a variant haplotype of five mis-sense mutations located on the part of the gene encoding the fourth and fifth extracellular domains of the protein, is not associated with the disease. The second marker consists of a single silent T to C transition at position 809 and was found to be significantly more frequent (P = 0.015) in Caucasian PF patients (n = 36) than in controls (n = 98). Thus, pemphigus foliaceus constitutes another example of autoimmune disease in which the autoantigen polymorphism contributes to disease susceptibility.
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This work was supported by the Institut National de la Santé et de la Recherche Médicale (INSERM U519).
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Martel, P., Gilbert, D., Drouot, L. et al. A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease . Genes Immun 2, 41–43 (2001). https://doi.org/10.1038/sj.gene.6363718
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DOI: https://doi.org/10.1038/sj.gene.6363718
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