【摘要】 目的研究nephrin的编码基因NPHS1的单核苷酸多态性(SNP)与微小病变性肾病(MCNS)发病及其蛋白尿等的关系。方法720例外周血DNA样本,包括经肾脏活检证实的MCNS患者226例及地域匹配的正常对照494名。选择引起错义突变的NPHS1基因349G/A多态性位点,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法进行关联分析。同时收集患者的性别、年龄、高血压病史、蛋白尿、血尿、血清白蛋白、肌酐、病程及激素治疗等临床资料,分析SNP与患者临床表现的关系。结果①MCNS患者中NPHS1基因349G/A多态性位点的A等位基因(0.786 vs 0.705)与AA基因型(0.636 vs 0.530)的频率都显著升高(P<0.05)。②对NPHS1基因349G/A多态性分析显示,具有不同基因型患者之间性别、年龄、高血压病史、蛋白尿、血尿、血清白蛋白、肌酐、病程及激素治疗等差异均无统计学意义。结论NPHS1基因349G/A多态性与MCNS的发病相关。更多还原

【Abstract】 Objective To examine the polymorphisms of the nephrin-encoding gene,NPHS1,in patients with minimal change nephrotic syndrome(MCNS),and investigate the correlation of NPHS1 polymorphism with MCNS.Methods Seven hundred and twenty subjects,including 226 patients with histologically proven MCNS and 494 geography-matched healthy controls,were enrolled in the present study.NPHS1 gene was selected as candidate gene,and case-control correlation study was performed in a large Han Chinese population.The polymorphisms of NPHS1 G349A were determined by PCR-RFLP.The G349A alleles and genotype frequencies were compared in MCNS patients and normal controls.In addition,correlation of G349A polymorphisms with sex,age,proteinuria,blood pressure,hematuria,creatinine were analyzed in the patients with MCNS.Results ①Among 217 MCNS patients who presented with clinical and histological data,percentages of those carrying A allele(0.786 vs 0.705) and AA genotype of NPHS1 G349A(0.636 vs 0.530) were significantly higher than those of healthy controls(P<0.05).②Analysis of SNP in patients with MCNS revealed non-significant difference in urine protein of patients with different genotypes.Conclusion This study suggests that NPHS1 349G/A may be correlated with the morbidity of MCNS patients.更多还原