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Association of STAT4 polymorphism with systemic sclerosis in a Japanese population
  1. N Tsuchiya1,
  2. A Kawasaki1,
  3. M Hasegawa2,
  4. M Fujimoto2,
  5. K Takehara2,
  6. Y Kawaguchi3,
  7. M Kawamoto3,
  8. M Hara3,
  9. S Sato4
  1. 1
    Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba, Japan
  2. 2
    Department of Dermatology, Kanazawa University, Graduate School of Medical Science, Kanazawa, Japan
  3. 3
    Institute of Rheumatology, Tokyo Women’s Medical University, Tokyo, Japan
  4. 4
    Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
  1. N Tsuchiya, Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki 305-8575, Japan; tsuchiya-tky{at}umin.net

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Some susceptibility genes are shared by multiple autoimmune diseases. For example, the interferon regulatory factor 5 (IRF5) gene is associated with various autoimmune diseases including systemic lupus erythematosus (SLE) and systemic sclerosis (SSc).13 The signal transducer and activator of transcription 4 (STAT4) gene has been shown to be a susceptibility gene for rheumatoid arthritis (RA) and SLE.4 5 STAT4 is a transcription factor involved in interleukin (IL)12 signalling in induction of interferon (IFN)γ production and T helper type 1 (Th1) cell differentiation, type I IFN signalling and IL23-induced IL17 production.6 An association of rs7574864 with SSc was recently reported by a large-scale case-control study in European populations.7 In the present study, we examined the association of a STAT4 intron 3 single nucleotide …

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