G2Cdb::Human Disease report

Disease id
D00000246
Name
Pemphigus foliaceus
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001856 DSG1
desmoglein 1
Y (12209366) Single nucleotide polymorphism (SNP) Y

References

  • Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism.

    Ayed MB, Martel P, Zitouni M, Gilbert D, Turki H, Mokni M, Osman AB, Kamoun MR, Zahaf A, Makni S, Masmoudi H and Tron F

    Laboratoire d'Immunologie, CHU Hedi Chaker, Sfax, Tunisia.

    Desmoglein 1 is the target antigen and probably the initiating immunogen of the autoantibody response in pemphigus foliaceus (PF), a blistering autoimmune skin disease. We previously showed that the desmoglein 1 gene (DSG1) is polymorphic and that one of its variants is associated with the sporadic form of PF observed in France. Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations.

    Genes and immunity 2002;3;6;378-9

Literature (1)

Pubmed - human_disease

  • Tunisian endemic pemphigus foliaceus is associated with desmoglein 1 gene polymorphism.

    Ayed MB, Martel P, Zitouni M, Gilbert D, Turki H, Mokni M, Osman AB, Kamoun MR, Zahaf A, Makni S, Masmoudi H and Tron F

    Laboratoire d'Immunologie, CHU Hedi Chaker, Sfax, Tunisia.

    Desmoglein 1 is the target antigen and probably the initiating immunogen of the autoantibody response in pemphigus foliaceus (PF), a blistering autoimmune skin disease. We previously showed that the desmoglein 1 gene (DSG1) is polymorphic and that one of its variants is associated with the sporadic form of PF observed in France. Herewith, we report, based on a case-control analysis, that the same DSG1 polymorphism participates in susceptibility to the endemic form of PF seen in Tunisia and, thus, show that common genetic factors govern the breakage of tolerance to desmoglein 1 in different epidemiological and environmental situations.

    Genes and immunity 2002;3;6;378-9

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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