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A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease.
- Source :
-
Genes and immunity [Genes Immun] 2001 Feb; Vol. 2 (1), pp. 41-3. - Publication Year :
- 2001
-
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.
Details
- Language :
- English
- ISSN :
- 1466-4879
- Volume :
- 2
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Genes and immunity
- Publication Type :
- Academic Journal
- Accession number :
- 11294567
- Full Text :
- https://doi.org/10.1038/sj.gene.6363718