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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
immunology and microbiology
Genetic factors in pemphigus
Journal of Autoimmunity, Volume 24, No. 4, Year 2005
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Description
Epidemiological studies performed in different ethnic populations and family studies, notably based on a partial phenotype of the autoimmune process, indicate that genetic factors are involved in the occurrence of pemphigus. However, the precise heritability remains uncertain in the absence of twin concordance rate studies. Among the different strategies available to identify genetic factors participating in autoimmune disease susceptibility, only population studies based on case-control design have been performed in pemphigus. These studies consistently showed that MHC locus, in particular HLA class II alleles, are associated with pemphigus vulgaris and pemphigus foliaceus. Other genes of the MHC locus may also participate in disease susceptibility as shown by studies using microsatellite markers across different regions of the MHC. It is likely that other non-MHC genes are involved in the pathogenesis of pemphigus. In particular, involvement of a polymorphic variant of desmoglein 1 gene was shown to be associated with pemphigus foliaceus and to interact in an epistatic manner with MHC class II genes to contribute to the autoimmune process. Other candidate genes to which a role can be assigned in the disease pathogenesis should be considered to design case-control or family-based association studies. Genome scan studies which require a large number of multiplex families to reach statistical power, should also be considered in the endemic form of pemphigus foliaceus because of the high number of familial cases. © 2005 Elsevier Ltd. All rights reserved.
Authors & Co-Authors
Tron, Françcois
France, Rouen
Hopital Charles Nicolle
Gilbert, Danieèle
France, Rouen
Hopital Charles Nicolle
Mouquet, Hugo
France, Rouen
Hopital Charles Nicolle
Joly, Pascal
France, Rouen
Hopital Charles Nicolle
Drouot, Laurent
France, Rouen
Hopital Charles Nicolle
Makni, Soundes
Tunisia, Sfax
Chu Habib Bourguiba
Masmoudi, Hatem
Tunisia, Tunis
Hôpital la Rabta
Charron, Dominique J.
France, Paris
Hôpital Saint-louis
France, Paris
Inserm
Zitouni, Mondher
Tunisia, Sfax
Chu Habib Bourguiba
Loiseau, Pascale
France, Paris
Hôpital Saint-louis
Ayed, Mourad Ben
Tunisia, Tunis
Hôpital la Rabta
Statistics
Citations: 76
Authors: 11
Affiliations: 5
Identifiers
Doi:
10.1016/j.jaut.2005.03.006
ISSN:
08968411
Research Areas
Genetics And Genomics
Study Design
Cross Sectional Study
Case-Control Study