Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis
Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis
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DOI：
10.1136/ard.2008.098277
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发表时间：
2009-03-01
影响因子：
27.4
通讯作者：
Ibba-Manneschi, L.
中科院分区：
文献类型：
--
作者：
Manetti, M.;Liakouli, V.;Ibba-Manneschi, L.
目的：探讨SDF1-3多态性与系统性硬化症（SSc）易感性或临床表型或两者的可能关系。方法：选取150例SSc患者和150例对照组。评估皮肤受累、自身抗体、间质性肺疾病、肺动脉高压（PAH）、硬皮病、肾危像、过去和/或现在的皮肤溃疡。采用PCR-RFLP进行基因分型。结果：SSc的基因型分布和等位基因频率与对照组相似。SSc- pah患者的sdf1 -3’a等位基因和sdf13’ga /AA基因型频率显著高于SSc-非pah患者（33.3% vs 18.3%, p = 0.01），伴有皮肤溃疡的SSc患者的sdf1 -3’a等位基因和sdf13’ga /AA基因型频率显著高于无溃疡的SSc患者（27.3% vs 16.9%, p = 0.03）。SDF1-3'A等位基因影响ssc相关PAH （OR= 2.52, 95% CI 1.11 ~ 5.69, p = 0.02）和皮肤溃疡（OR= 2.31, 95% CI 1.18 ~ 4.52, p = 0.01）的易感性。在调整年龄和性别后，SDF1-3'A等位基因仍然是ssc相关血管表现的易感因素（PAH: OR= 2.37, 95% CI 1.04 ~ 5.42, p = 0.04；溃疡：OR= 2.33, 95% CI 1.78 ~ 4.62, p = 0.01）。结论：SDF1-3'A等位基因与SSc微血管受累密切相关。
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 SDF13'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.