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- Title
A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease.
- Authors
Martel, P; Gilbert, D; Drouot, L; Prost, C; Raux, G; Delaporte, E; Joly, P; Tron, F
- 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. Genes and Immunity (2001) 2 , 41–43.
- Subjects
PEMPHIGUS; GENETIC polymorphisms; GENETICS of autoimmune diseases; GENETICS
- Publication
Genes & Immunity, 2001, Vol 2, Issue 1, p41
- ISSN
1466-4879
- Publication type
Article
- DOI
10.1038/sj.gene.6363718