论文部分内容阅读
目的探讨纤溶酶原激活剂抑制物-1(plasminogen activator inhibitor-1,PAI-1)基因启动子区4G/5G多态性与特发性肺纤维化(IPF)的相关性。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析,检测42例IPF患者和164例正常对照组人群PAI-1基因4G/5G多态性。结果PAI-1基因4G/4G、4G/5G、5G/5G基因型频率分布,IPF组分别为31.0%、50.0%、19.0%,对照组分别为17.1%、54.9%、28.0%;4G和5G等位基因频率,IPF组分别为0.560和0.440,对照组分别为0.445和0.555;4G/4G基因型频率IPF组显著高于对照组(P<0.05)。与4G/5G和5G/5G基因型比较,携带4G/4G型个体发生IPF的风险增加2.18倍,95%CI:1.02～4.68(P<0.05)。结论PAI-1基因4G/5G多态性与IPF的发病相关,纯合子4G/4G基因型可能是IPF发病的重要危险因素之一。
Objective To investigate the relationship between 4G / 5G polymorphism in promoter region of plasminogen activator inhibitor-1 (PAI-1) gene and idiopathic pulmonary fibrosis (IPF). Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used to detect the 4G / 5G polymorphism of PAI-1 gene in 42 IPF patients and 164 healthy controls. Results The frequencies of 4G / 4G, 4G / 5G and 5G / 5G genotypes of PAI-1 gene were 31.0%, 50.0% and 19.0% in IPF group and 17.1%, 54.9% and 28.0% in control group respectively. The frequencies of alleles were 0.560 and 0.440 in IPF group and 0.445 and 0.555 in control group respectively. The frequency of 4G / 4G genotype in IPF group was significantly higher than that in control group (P <0.05). Compared with the 4G / 5G and 5G / 5G genotypes, the risk of developing IPF in 4G / 4G-bearing individuals increased 2.18-fold, 95% CI: 1.02-4.68 (P <0.05). Conclusion The 4G / 5G polymorphism of PAI-1 gene is associated with the pathogenesis of IPF. The homozygote 4G / 4G genotype may be one of the important risk factors of IPF.