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Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis
  1. Mirko Manetti (mirkomanetti{at}yahoo.it)
  1. Department of Anatomy, Histology and Forensic Medicine, University of Florence, Florence, Italy
    1. Vasiliki Liakouli (vasiliki_liakouli{at}yahoo.it)
    1. Department of Internal Medicine and Public Health, Division of Rheumatology, University of L'A, Italy
      1. Cinzia Fatini (cinzia.fatini{at}unifi.it)
      1. Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Italy
        1. Paola Cipriani (paolacipriani{at}tiscali.it)
        1. Department of Internal Medicine and Public Health, Division of Rheumatology, University of L'A, Italy
          1. Claudia Bonino (clabonino{at}libero.it)
          1. Division of Rheumatology, University of Pavia, Pavia, Italy
            1. Serena Vettori (serenavettori{at}libero.it)
            1. Division of Rheumatology, II University of Naples, Naples, Italy
              1. Serena Guiducci (serena16{at}libero.it)
              1. Department of Biomedicine, Division of Rheumatology, AOUC, University of Florence, Florence, Italy
                1. Carlomaurizio Montecucco (montecucco{at}smatteo.pv.it)
                1. Division of Rheumatology, University of Pavia, Pavia, Italy
                  1. Rosanna Abbate (r.abbate{at}dfc.unifi.it)
                  1. Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Italy
                    1. Gabriele Valentini (gabriele.valentini{at}unina2.it)
                    1. Division of Rheumatology, II University of Naples, Naples, Italy
                      1. Marco Matucci-Cerinic (cerinic{at}unifi.it)
                      1. Department of Biomedicine, Division of Rheumatology, AOUC, University of Florence, Florence, Italy
                        1. Roberto Giacomelli (roberto.giacomelli{at}cc.univaq.it)
                        1. Department of Internal Medicine and Public Health, Division of Rheumatology, University of L'A, Italy
                          1. Lidia Ibba-Manneschi (ibba{at}unifi.it)
                          1. Department of Anatomy, Histology and Forensic Medicine, University of Florence, Florence, Italy

                            Abstract

                            Objective: Systemic sclerosis (SSc) is characterised by generalised microangiopathy with defective angiogenesis and vasculogenesis. SDF-1/CXCL12 and its receptor CXCR4 play crucial roles in angiogenesis and EPC mobilization/homing to ischemic tissues. Perturbation of SDF-1/CXCR4 axis was implicated in the pathogenesis of SSc-related microvasculopathy. A SDF-1 gene polymorphism (SDF1-3') was associated with SDF-1 expression and CD34+ progenitor cell mobilization. We investigated the possible implication of SDF1-3' polymorphism in SSc susceptibility and/or clinical phenotype.

                            Methods: 150 SSc patients and 150 controls were enrolled. Skin involvement, autoantibodies, ILD, PAH, SRC, past and/or current skin ulcers were assessed. Genotyping was performed by PCR-RFLP.

                            Results: Genotype distribution and allele frequency were similar in SSc and controls. SDF1-3'A allele and SDF1-3'GA/AA genotype frequencies were significantly higher in SSc-PAH compared with SSc-nonPAH (P=0.01), and in SSc with skin ulcers compared with SSc without ulcers (P=0.03). SDF1-3'A allele influenced the predisposition to SSc-related PAH (OR 2.52, 95%CI 1.11–5.69, P=0.02), and skin ulcers (OR 2.31, 95%CI 1.18–4.52, P=0.01). After adjustment for age and gender, SDF1-3'A allele remained a susceptibility factor for the SSc-related vascular manifestations (for PAH, OR 2.37, 95%CI 1.04–5.42, P=0.04; for ulcers, OR 2.33, 95%CI 1.78–4.62, P=0.01).

                            Conclusion: SDF1-3'A allele is significantly associated with microvascular involvement in SSc.

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