title: IL-10, IL-12B and IL-17 gene polymorphisms in patients with mixed connective tissue disease.
abstract: OBJECTIVE
  Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease with a prevalence of about 10 cases/100,000. It seems that in the pathogenesis of MCTD no individual cytokines/cells, but rather an altered pattern of these markers altogether may contribute to the autoimmune processes and their balance determines disease activity. IL-10, IL-12 and IL-17F as inflammatory cytokines might be an important functional candidate genes for autoimmune diseases including MCTD.
  
  
  METHODS
  The study group consisted of 66 patients with MCTD and of 106 (163 for IL-12B) healthy individuals. SNPs in the IL-10 (- 592C/A, - 1082G/A), IL-12B (+ 1188A/C) and IL-17F (His161Arg, Glu126Gly) genes were investigated by PCR-RFLP approach.
  
  
  RESULTS
  The frequency of the IL-10-592A and -1082A allele was higher in MCTD patients than in control groups (both p = 0,0000). In addition the -1082G/A IL-10 gene polymorphism was associated with esophageal involvement and with anti-U1-A and -C antibodies. The IL-17 7488A/G variant showed correlation with presence of anti-SmB and anti-dsDNA antibodies, while the IL-17F 7383A/G variant was associated with Sjögren's syndrome and leuco-and thrombocytopenia. Moreover, the IL-12 SNP + 1188A/C showed correlation with sclerodactyly in MCTD patients.
  
  
  CONCLUSIONS
  Present findings indicate that IL-10 gene variants may be considered as genetic risk factors for MCTD susceptibility.
authors.affiliation: Department of Biochemistry and Molecular Biology, Institute of Rheumatology , Warsaw , Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Paradowska-Gorycka
authors.forename: Monika
authors.initials: M
authors.lastname: Jurkowska
authors.forename: Zenobia
authors.initials: Z
authors.lastname: Czuszynska
authors.forename: Anna
authors.initials: A
authors.lastname: Felis-Giemza
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Mańczak
authors.forename: Zbigniew
authors.initials: Z
authors.lastname: Zdrojewski
authors.forename: Marzena
authors.initials: M
authors.lastname: Olesinska
mesh_terms: D000483:Alleles; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D053762:Interleukin-12 Subunit p40 / Q000235:genetics*; D020381:Interleukin-17 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008947:Mixed Connective Tissue Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C508609:IL10 protein, human; C500879:IL12B protein, human; D053762:Interleukin-12 Subunit p40; D020381:Interleukin-17; D016753:Interleukin-10
keywords: Cytokines; Gene polymorphisms; MCTD; Mixed connective tissue disease; Pathogenesis