基质细胞衍生因子1（SDF-1/CXCL12）基因多态性与系统性硬化症微血管疾病之间的关联
Association between a stromal cell-derived factor 1 (SDF-1/CXCL12) gene polymorphism and microvascular disease in systemic sclerosis.
作者信息
Manetti M, Liakouli V, Fatini C, Cipriani P, Bonino C, Vettori S, Guiducci S, Montecucco C, Abbate R, Valentini G, Matucci-Cerinic M, Giacomelli R, Ibba-Manneschi L
机构信息
Department of Anatomy, Histology and Forensic Medicine, University of Florence, Florence, Italy.
出版信息
Ann Rheum Dis. 2009 Mar;68(3):408-11. doi: 10.1136/ard.2008.098277. Epub 2008 Oct 17.
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.
目的
研究基质细胞衍生因子1（SDF1）-3'多态性在系统性硬化症（SSc）易感性或临床表型，或两者中的潜在影响。
方法
纳入150例SSc患者和150例对照。评估皮肤受累情况、自身抗体、间质性肺病、肺动脉高压（PAH）、硬皮病肾危象、既往和/或当前皮肤溃疡情况。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）进行基因分型。
结果
SSc患者和对照的基因型分布及等位基因频率相似。SSc合并PAH患者中SDF1-3'A等位基因及SDF1-3'GA/AA基因型频率显著高于SSc无PAH患者（33.3%对18.3%，p = 0.01），且SSc有皮肤溃疡患者中该等位基因及基因型频率显著高于SSc无溃疡患者（27.3%对16.9%，p = 0.03）。SDF1-3'A等位基因影响SSc相关PAH的易感性（比值比[OR]=2.52，95%可信区间[CI]1.11至5.69，p = 0.02）及皮肤溃疡的易感性（OR = 2.31，95%CI 1.18至4.52，p = 0.01）。在对年龄和性别进行校正后，SDF1-3'A等位基因仍是SSc相关血管表现的易感因素（PAH：OR = 2.37，95%CI 1.04至5.42，p = 0.04；溃疡：OR = 2.33，95%CI 1.78至4.62，p = 0.01）。
结论
SDF1-3'A等位基因与SSc的微血管受累显著相关。
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