ICOS gene polymorphism may be associated with pemphigus.

BACKGROUND

Pemphigus is an autoimmune blistering disease mediated by circulating IgG autoantibodies directed against desmogleins 3 and/or 1. As pemphigus is a T cell-mediated disease, one may assume that genetically determined disregulation of costimulatory signal may be involved in its pathogenesis.

OBJECTIVE

The aim of the present study was to evaluate the relationship between polymorphisms in genes encoding costimulatory receptors, CTLA4 and ICOS, and pemphigus in the Polish population.

METHODS

The study included 54 patients with pemphigus: 40 with pemphigus vulgaris (PV) and 14 with pemphigus foliaceus (PF). Additionally, 176 healthy unrelated blood donors served as controls. +49A/G CTLA4 and IVS1+173 ICOS polymorphisms were identified using a modified polymerase chain reaction-restriction fragment-length polymorphism.

RESULTS

Analysis of the frequency of genotypes and alleles of +49A/G CTLA4 gene polymorphism showed no statistically significant differences between the PV and PF patients and the controls. The distribution of genotypes in IVS1+173 ICOS polymorphisms was significantly different in both PV (p < .01) and PF (p  =  .0004) patients when compared to controls. The carriers of the allele C were more frequent in PV or PF in comparison with the control group (p < .001 for both groups).

CONCLUSIONS

Our results suggest that genetically determined abnormal function of costimulatory receptors in T cells may be associated with the pathogenesis of pemphigus.