纤溶酶原激活物抑制剂-1基因启动子区4G/5 G多态性与IgA肾病肾小球硬化的相关性研究

目的　探讨原发性肾小球疾病患者中纤溶酶原激活物抑制物 1(PAI 1)基因多态性及其产物与IgA肾病肾小球硬化的关系。 方法　随机收集上海地区汉族人种IgA肾病患者 98例 ,其中伴肾小球硬化者 (G组 ) 5 3例 (5 4 % ) ,无肾小球硬化者 (non G组 ) 4 5例 (46 % ) ,另设 95名健康体检者为对照组。采用发色底物法测定血浆PAI 1,采用等位基因特异多聚酶链反应 (ASPCR)法进行PAI 14G/ 5G基因型分析。结果　G组的 4G/4G基因型发生频率 (45 .3% )、4G等位基因频率 (0 .6 7% )显著高于non G组 (13.3%、0 .4 1% ,P值均 <0 .0 5 )。而G组 5G/ 5G基因型的发生频率 (11.3% )则显著低于non G组 (31.1% ,P <0 .0 5 ) ;IgA肾病患者和对照组中携带 4G/ 4G基因的患者血浆PAI 1水平显著高于其他基因型 (P值分别 <0 .0 5和 <0 .0 1)。结论　PAI 14G/4G基因型和 4G等位基因与肾小球硬化显著相关 ,PAI 14G/ 4G基因型携带者血浆PAI 1水平升高

Study of the plasma PAI-1 activity and its promotor region gene polymorphism in IgA nephropathy with glomerulosclerosis

Objective To investigate whether the plasma PAI 1 activity and gene polymorphism played a pathogenetic role in IgA nephropathy with glomerulosclerosis. Methods The 4G/5G allelic polymorphism in the PAI 1 gene promotor region were genotyped by PCR using allele specific polymerase chain reaction (ASPCR) from the peripheral blood leukocytes of 98 patients with IgA nephropathy (53 patients were with glomerulosclerosis) and 95 normal controls. The plasma PAI 1 activity were assayed by chromogenic substrate. Results Genotypic frequencies of PAI 1 4G/4G (45.3%)and 4G allele(0.67%) in IgAN with glomerulosclerosis were higher than the group without of glomerulosclerosis(P<0.05) , PAI 1 level was significantly higher in 4G allele homozygous than those in 4G/5G heterozygous and 5G homozygous patients. Conclusion Elevated plasma PAI 1 activity and 4G allele homozygous genotype might be the major risk factors of IgA nephropathy with glomerulosclerosis.