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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}

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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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  • Competing interests: None declared.

  • Funding: This work was supported by a Grant-in-Aid for Scientific Research (B) from Japan Society for the Promotion of Science (JSPS), Health and Labour Science Research Grants from the Ministry of Health, Labour and Welfare of Japan, Japan Rheumatism Foundation, The Naito Foundation and Mitsubishi Pharma Research Foundation.

  • Ethics approval: This study was reviewed and approved by the research ethics committees of the University of Tsukuba, the University of Tokyo, the University of Kanazawa and Tokyo Women’s Medical University. Informed consent was provided by all participants.

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