原发性免疫性血小板减少症患者PAI-1基因的多态性

Polymorphism of PAI-1 gene in patients with primary immune thrombocytopenia

目的:通过分析原发性免疫性血小板减少症(primary immune thrombocytopenia,ITP)患者的纤维蛋白溶解酶活化物抑制剂-1(fibrinolytic enzyme activator inhibitor-1,PAI-1)基因多态性,探讨其临床意义。方法:研究46例ITP患者,以明确继发于系统性红斑狼疮(systemic lupus erythematosus,SLE)的血小板减少症患者4 2例和明确继发于感染的血小板减少症患者3 3例分别作为对照。采用荧光染色原位杂交测序法检测PAI-1基因多态性。结果:46例ITP患者中,33例PAI-1基因表型为4G4G型,9例为4G5G型,4例为5G5G型。42例继发于SLE的血小板减少症患者中,30例为4G4G型,5例为4G5G型,7例为5G5G型。继发于感染的血小板减少症患者中,3例为4G4G型,23例为4G5G型,7例为5G5G型。ITP患者PAI-1基因4G4G型与继发于SLE的患者PAI-1基因4G4G型检出率相似,而与继发于感染患者的PAI-1基因4G4G型之间差异有统计学意义(P<0.05)。结论:ITP和继发于SLE的血小板减少症患者PAI-1基因多呈4G4G型,而继发于感染的血小板减少症患者多呈非4G4G型。ITP患者检测PAI-1基因多态性将有望评估其血栓风险及向SLE发展的可能性。

Objective: To investigate the clinical significance of fibrinolytic enzyme activator inhibitor-1 (PAI-1) gene polymorphism in patients with primary immune thrombocytopenia (ITP). Methods: Forty-six patients with ITP were enrolled to identify 42 patients with thrombocytopenia secondary to systemic lupus erythematosus (SLE) and 33 patients with thrombocytopenia secondary to infection as control. The PAI-1 gene polymorphism was detected by fluorescence staining in situ hybridization sequencing. Results: Of the 46 patients with ITP, 33 had a PAI-1 gene phenotype of 4G4G, 9 were 4G5G, and 4 were 5G5G. Of the 42 patients with thrombocytopenia secondary to SLE, 30 were 4G4G, 5 were 4G5G, and 7 were 5G5G. Among the patients with thrombocytopenia secondary to infection, 3 were 4G4G, 23 were 4G5G, and 7 were 5G5G. The PAI-1 gene 4G4G type was similar to the PEI-1 gene 4G4G type in patients with ITP, but it was statistically different from the PAI-1 gene 4G4G type secondary to infected patients (P<0.05). Conclusion: The PAI-1 gene of ITP and thrombocytopenia secondary to SLE is mostly 4G4G, while the patients with secondary thrombocytopenia are mostly non-4G4G. Detection of the PAI-1 gene polymorphism in patients with ITP is expected to assess the risk of thrombosis and the potential for progression to SLE.