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Association study of a polymorphism of the CTGF gene and susceptibility to systemic sclerosis in the Japanese population
  1. Yasushi Kawaguchi (y-kawa{at}ior.twmu.ac.jp)
  1. Tokyo Women's Medical University, Japan
    1. Yuko Ota
    1. Tokyo Women's Medical University, Japan
      1. Manabu Kawamoto
      1. Tokyo Women's Medical University, Japan
        1. Ikue Ito
        1. University of Tsukuba, Japan
          1. Naoyuki Tsuchiya
          1. University of Tsukuba, Japan
            1. Tomoko Sugiura
            1. Tokyo Women's Medical University, Japan
              1. Yasuhiro Katsumata
              1. Tokyo Women's Medical University, Japan
                1. Makoto Soejima
                1. Tokyo Women's Medical University, Japan
                  1. Shinichi Sato
                  1. Nagasaki University Graduate School of Biomedical Sciences, Japan
                    1. Minoru Hasegawa (minoruha{at}derma.m.kanazawa-u.ac.jp)
                    1. Kanazawa University Graduate School of Medical Science, Japan
                      1. Manabu Fujimoto (mfujimoto{at}derma.m.kanazawa-u.ac.jp)
                      1. Kanazawa University Graduate School of Medical Science, Japan
                        1. Kazuhiko Takehara (takehara{at}med.m.kanazawa-u.ac.jp)
                        1. Kanazawa University Graduate School of Medical Science, Japan
                          1. Masataka Kuwana
                          1. Keio University School of Medicine, Japan
                            1. Hisashi Yamanaka (yamanaka{at}ior.twmu.ac.jp)
                            1. Tokyo Women's Medical University, Japan
                              1. Masako Hara (mhara{at}ior.twmu.ac.jp)
                              1. Tokyo Women's Medical University, Japan

                                Abstract

                                Objectives: To validate the association of a single nucleotide polymorphism (SNP) of the connective tissue growth factor gene (CTGF) with susceptibility to systemic sclerosis (SSc) in the Japanese population.

                                Methods: Three hundred ninety-five Japanese patients with SSc, 115 patients with rheumatoid arthritis, and 269 healthy Japanese volunteers were enrolled in this study. An SNP (rs6918698) at –945 bp from the start codon in the promoter region of the CTGF gene was determined by allelic discrimination with the use of a specific TaqMan probe.

                                Results: The G allele showed a significantly higher frequency in patients with SSc than in controls (P = 0.00028; odds ratio, 1.5; 95% confidence interval, 1.2-1.9). In particular, the clinical subsets of SSc showed a more significant association between the G allele and diffuse cutaneous SSc (P = 0.000003) and the presence of interstitial lung disease (P = 0.0000006), the presence of anti-topoisomerase I antibody (P = 0.00011), and anti-U1RNP antibody (P = 0.010). Association analyses using the genotype of the SNP yielded results similar to those of analyses using the allele.

                                Conclusions: We confirmed the association between an SNP in the CTGF gene and susceptibility to SSc, especially in the presence of diffuse cutaneous SSc, interstitial lung disease, and anti-topoisomerase I antibody. Our results strongly suggest that this SNP may be a powerful indicator of severe skin and lung involvement in patients with SSc.

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