title: Cytokine gene polymorphisms in sarcoidosis.
abstract: BACKGROUND
  Sarcoidosis is a disease characterized by granuloma formation in many organs, but mostly in lung and lymph nodes. The immunopathogenic background of the disease is probably based on disregulation of immune response to different antigens. The imbalance of immune reactivity might be influenced by genetic background. In our study, we have investigated cytokine genetic polymorphisms in sarcoidosis group and compared the results with that of a group of healthy volunteers.
  
  
  METHODS
  Thirty one sarcoidosis patients were enrolled to our study. Basic demographic data were collected. Polymorphisms in the promoter regions of the IL-1alpha, IL-1beta, IL-1R, IL-1RA, IL-2, IL-4, IL-6, IL-10, IL-12, TNF-alpha, IFN-gamma and in the translated regions of the TGF-beta, IL-1 beta, IL-2, IL-4 and IL-4RA genes were characterized.
  
  
  RESULTS
  For IL-10, the (-819) and (-592) CC homozygosity was statistically more frequent in the sarcoidosis group compared to healthy controls. According to the haplotypes, the majority of sarcoidosis patients had IL-10 (-1082)(-819)(-592) ACC haplotype 2 compared to controls with ATA in most of the cases.
  
  
  CONCLUSIONS
  The results of our study support the hypothesis of a genetically encoded immune regulation imbalance in sarcoidosis. The high-producer IL-10 (-819) and (-592) CC genotypes and intermediate- producer IL-10 (-1082) (-819) (-592) ACC haplotype 2 present in the majority of our sarcoidosis patients could support the role of genetically encoded disregulation of cell- mediated immune response to an unknown antigen.
authors.affiliation: Department of Respiratory Diseases, 1st Medical School Charles University and University Thomayer Hospital Prague, Czech Republic. martina.vasakova@ftn.cz
authors.forename: M
authors.initials: M
authors.lastname: Vasakova
authors.forename: M
authors.initials: M
authors.lastname: Sterclova
authors.forename: L
authors.initials: L
authors.lastname: Kolesar
authors.forename: A
authors.initials: A
authors.lastname: Slavcev
authors.forename: J
authors.initials: J
authors.lastname: Skibova
authors.forename: I
authors.initials: I
authors.lastname: Striz
mesh_terms: D016022:Case-Control Studies; D016009:Chi-Square Distribution; D016207:Cytokines / Q000235:genetics*; D018153:Czech Republic; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012507:Sarcoidosis / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics
chemical_list: D016207:Cytokines; C508609:IL10 protein, human; D016753:Interleukin-10