PAI-1基因4G4G基因型与IgA肾病易感性及临床表现的关系

目的探讨PAI-1基因启动子区4G／5G多态性与IgA肾病的发生、进展和临床表现的关系。方法收集IgA肾病患者的临床资料；应用PCR-限制性片段长度多态技术分析296例IgA肾病患者和310名健康人的PAI-1基因4G／5G多态性；分析PAI-1基因4G／5G多态性与IgA肾病的发生与临床表现及病理改变的关系。结果（1）PAI-1基因4G4G，4G5G，5G5G基因型频率在IgA肾病组和正常对照组分别为0．33、0．19、0．48和0．3、0．23、0．47，两组之间差异无统计学意义（X^2=1．63，P〉0．05）；（2）4G4G纯合子基因型频率在病理Lee氏分级Ⅲ级以下组（A组）和Ⅳ～Ⅴ级组（B组）分别为0．39和0．28，（X^20=7．86，P〈0．05）。（3）按基因型分组，4G4G组IgA肾病患者的肌酐清除率明显低于非4G4G组；4G4G组患者的血清甘油三酯水平明显高于5G5G组；4G4G组患者高甘油三酯血症发生率明显高于4G5G组（P〈0．05）。结论PAI-1基因启动子区4G／5G多态性不是IgA肾病发生的易感因素，但可能是IgA肾病病情加重的危险因子。

Relationship between PAI-1 gene 4G/5G polymorphism and clinical profile of IgA nephropathy

OBJECTIVE: It is clear that PAI-1 is a very important factor inhibiting extracellular matrix (ECM) degradation in the pathology process of IgA nephropathy (IgAN), so we design to investigate the relationship between PAI-1 promoter 4G/5G polymorphism and IgAN pathogenesis and progression. METHODS: Clinical baseline data such as blood pressure, urinary protein excretion, serum profile, and extent of renal tissue damage at the time of renal biopsy were collected. The genotypes of PAI-1 were profiled by PCR-RFLP. RESULTS: (1) The distributions of genotype 4G 4G, 4G5G, 5G5G in PAI-1 gene promoter showed no significant difference between the IgAN group (0.33, 0.19, 0.48) and control group (0.3, 0.23, 0.47; chi-square =1.63, P>0.05); (2) There is an increasing frequency of 4G4G homozygote in the IgAN group who had severe pathology change proved by biopsy (0.39 vs 0.28; chi-square =7.86, P<0.05); in the patients group,the ones who carried 4G4G genotype got lower Ccr than 4G5G genotype cases did (P<0.05). CONCLUSION: The data here suggest that the 4G/5G polymorphism of PAI-1 is not a risk factor in IgAN etiology, but may facilitate the process of IgAN to end stage renal disease.