title: TNF-alpha and IL-10 gene polymorphisms show a weak association with pemphigus vulgaris in the Slovak population.
abstract: BACKGROUND
  Pemphigus vulgaris is a rare chronic autoimmune disease of skin and mucous membranes, with several cytokines participating in its development. The role of their gene polymorphisms in susceptibility to the disease is, however, not fully understood.
  
  
  OBJECTIVE
  The aim of our case-control study was to investigate whether some of 22 single nucleotide polymorphisms (SNPs) in 13 cytokine genes (IL-1alpha, IL-1beta, IL-1RI, IL-1Ra, IL-4Ralpha, IL-12, IFN-gamma, TGF-beta1, TNF-alpha, IL-2, IL-4, IL-6 and IL-10) are associated with pemphigus vulgaris in the Slovak population.
  
  
  METHODS
  DNA samples were obtained from 34 pemphigus vulgaris patients and 140 healthy controls of Slovak origin. Cytokine gene SNPs were determined using the polymerase chain reaction with sequence-specific primers (PCR-SSP) method. Results We found a weak association between pemphigus vulgaris and polymorphic variants in TNF-alpha and IL-10 genes only, with haplotypes TNF-alpha-308G/-238G and IL-10 -1082A/-819C/-592C being significantly overrepresented in pemphigus vulgaris patients (TNF-alpha GG: 94.12% vs. 82.86%, P = 0.0216; IL-10 ACC: 44.12% vs. 30.00%, P = 0.0309).
  
  
  CONCLUSIONS
  Our preliminary results suggest that certain TNF-alpha and IL-10 gene polymorphisms might contribute to genetic susceptibility to pemphigus vulgaris; however, their overall impact on disease development will be rather limited.
authors.affiliation: Department of Immunology, Comenius University, Bratislava, Slovakia. jurajjavor@gmail.com
authors.forename: J
authors.initials: J
authors.lastname: Javor
authors.forename: N
authors.initials: N
authors.lastname: Chmurova
authors.forename: Z
authors.initials: Z
authors.lastname: Parnicka
authors.forename: S
authors.initials: S
authors.lastname: Ferencik
authors.forename: H
authors.initials: H
authors.lastname: Grosse-Wilde
authors.forename: M
authors.initials: M
authors.lastname: Buc
authors.forename: D
authors.initials: D
authors.lastname: Svecova
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D008297:Male; D010392:Pemphigus / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018154:Slovakia; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha; D016753:Interleukin-10