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.

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. - In: ANNALS OF THE RHEUMATIC DISEASES. - ISSN 0003-4967. - STAMPA. - 68:(2009), pp. 408-411.

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

MANETTI, MIRKO;FATINI, CINZIA;GUIDUCCI, SERENA;ABBATE, ROSANNA;MATUCCI CERINIC, MARCO;IBBA, LIDIA
2009

Abstract

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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Goal 3: Good health and well-being
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
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/368662
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