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。
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.
出处
《中国药物与临床》
CAS
2007年第4期253-256,共4页
Chinese Remedies & Clinics
基金
首都医学发展科研基金资助项目(2003-2001)
教育部新世纪优秀人才支持计划基金资助项目(985-2-007-113)
