A polymorphic variant of the gene coding desmoglein 1, the target autoantigen of pemphigus foliaceus, is associated with the disease.
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.
Martel
P
P
INSERM U519, Institut Fédératif de Recherche Multidisciplinaire sur les Peptides, Faculté de Médecine et H pital Charles Nicolle, Rouen, France.
Gilbert
D
D
Drouot
L
L
Prost
C
C
Raux
G
G
Delaporte
E
E
Joly
P
P
Tron
F
F
D000595:Amino Acid Sequence; D001324:Autoantigens / Q000235:genetics*; D001483:Base Sequence; D015820:Cadherins / Q000235:genetics*; D004247:DNA; D051183:Desmoglein 1; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010392:Pemphigus / Q000276:immunology*; D011110:Polymorphism, Genetic
D001324:Autoantigens; D015820:Cadherins; D051183:Desmoglein 1; D005819:Genetic Markers; D004247:DNA