Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis

M. Manetti, V. Liakouli, C. Fatini, P. Cipriani, C. Bonino, S. Vettori, S. Guiducci, C. Montecucco, R. Abbate, G. Valentini, M. Matucci-Cerinic, R. Giacomelli, L. Ibba-Manneschi

Research output: Contribution to journalArticlepeer-review


Objective: To investigate the possible implication of SDF1-3′ polymorphism In systemic sclerosis (SSc) susceptibility or clinical phenotype, or both. Methods: 150 patients with SSc and 150 controls were enrolled. Skin involvement, autoantibodies, interstitial lung disease, pulmonary arterial hypertension (PAH), scleroderma renal crisis, 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 than In SSc-non-PAH (33.3% vs 18.3%, p = 0.01) and In SSc with skin ulcers than In SSc without ulcers (27.3% vs 16.9%, p = 0.03). The SDF1-3′A allele influenced the predisposition to SSc-related PAH (OR = 2.52, 95% Cl 1.11 to 5.69, p = 0.02) and skin ulcers (OR = 2.31, 95% Cl 1.18 to 4.52, p = 0.01). After adjustment for age and gender, the SDF1-3′A allele remained a susceptibility factor for the SSc-related vascular manifestations (PAH: OR = 2.37, 95% Cl 1.04 to 5.42, p = 0.04; ulcers: OR = 2.33, 95% Cl 1.78 to 4.62, p = 0.01). Conclusion: The SDF1-3′A allele Is significantly associated with microvascular involvement In SSc.

Original languageEnglish
Pages (from-to)408-411
Number of pages4
JournalAnnals of the Rheumatic Diseases
Issue number3
Publication statusPublished - Mar 2009

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Biochemistry, Genetics and Molecular Biology(all)
  • Immunology and Allergy

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