CLINICAL AND EPIDEMIOLOGICAL RESEARCH

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

M Manetti^1,2, V Liakouli³, C Fatini⁴, P Cipriani³, C Bonino⁵, S Vettori⁶, S Guiducci², C Montecucco⁵, R Abbate⁴, G Valentini⁶, M Matucci-Cerinic², R Giacomelli³, L Ibba-Manneschi¹

¹ Department of Anatomy, Histology and Forensic Medicine, University of Florence, Florence, Italy
² Department of Biomedicine, Division of Rheumatology, AOUC and Excellence Centre for Research, Transfer and High Education DENOthe, University of Florence, Florence, Italy
³ Department of Internal Medicine and Public Health, Division of Rheumatology, University of L’Aquila, L’Aquila, Italy
⁴ Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Florence, Italy
⁵ Division of Rheumatology, University of Pavia, IRCCS Policlinico S Matteo, Pavia, Italy
⁶ Division of Rheumatology, II University of Naples, Naples, Italy

Professor L Ibba-Manneschi, Department of Anatomy, Histology and Forensic Medicine, University of Florence, Viale G B Morgagni 85, 50134 Florence, Italy; ibba{at}unifi.it

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% CI 1.11 to 5.69, p = 0.02) and skin ulcers (OR = 2.31, 95% CI 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% CI 1.04 to 5.42, p = 0.04; ulcers: OR = 2.33, 95% CI 1.78 to 4.62, p = 0.01).

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

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