title: ICOS gene polymorphism may be associated with pemphigus.
abstract: 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.
authors.affiliation: Department of Dermatology and Pediatrics and Laboratory of Immunodermatology, Medical University of Lodz, Poland. joanna.narbutt@onet.pl
authors.forename: Joanna
authors.initials: J
authors.lastname: Narbutt
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Lesiak
authors.forename: Izabela
authors.initials: I
authors.lastname: Klich
authors.forename: Jolanta Dorota
authors.initials: JD
authors.lastname: Torzecka
authors.forename: Anna
authors.initials: A
authors.lastname: Sysa-Jedrzejowska
authors.forename: Wojciech
authors.initials: W
authors.lastname: Młynarski
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D000945:Antigens, Differentiation, T-Lymphocyte / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D006579:Heterozygote; D006801:Humans; D060889:Inducible T-Cell Co-Stimulator Protein; D008297:Male; D008875:Middle Aged; D010392:Pemphigus / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D011044:Poland; D011110:Polymorphism, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D000945:Antigens, Differentiation, T-Lymphocyte; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; C556692:ICOS protein, human; D060889:Inducible T-Cell Co-Stimulator Protein