G2Cdb::Allele report

Mutation type
SNP

Altered genes (1)

Gene Symbol Species Description
G00001856 DSG1 Homo sapiens desmoglein 1

Diseases (1)

Disease Description Nervous effect
D00000246 Pemphigus foliaceus N

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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