IL-10, IL-12B and IL-17 gene polymorphisms in patients with mixed connective tissue disease. Issue 3 (May 2015)

• Record Type: Journal Article
• Authors: Paradowska-Gorycka, Agnieszka; Jurkowska, Monika; Czuszynska, Zenobia; Felis-Giemza, Anna; Mańczak, Malgorzata; Zdrojewski, Zbigniew; Olesinska, Marzena
• Is Part Of: Modern rheumatology. Volume 25:Issue 3(2015)
• Page Start: 487
• Page End: 489
• Publication Date: 2015-05
• Subjects: Rheumatology -- Periodicals; 616.723005
• DOI: 10.3109/14397595.2014.951143
• Languages: English
• ISSNs: 1439-7595

Abstract

<abstract> <title>Abstract</title> <p> <italic>Objectives</italic>. 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.</p> <p> <italic>Methods</italic>. 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.</p> <p> <italic>Results</italic>. The frequency of the IL-10-592A and -1082A allele was higher in MCTD patients than in control groups (both <italic>p = </italic>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.</p> <p> <italic>Conclusion</italic>. Present findings indicate that IL-10 gene variants may be considered as genetic risk factors for MCTD susceptibility.</p> </abstract>