NPHS1和NPHS2基因变异与儿童肾病综合征之间的关联。

Association between NPHS1 and NPHS2 gene variants and nephrotic syndrome in children.

作者信息

Hashemi Mohammad, Sadeghi-Bojd Simin, Rahmania Khaled, Eskandari-Nasab Ebrahim

机构信息

Research Center for Children and Adolescents Health; Department of Pediatrics, School of Medicine, Zahedan University of Medical sciences, Zahedan, Iran.

出版信息

Iran J Kidney Dis. 2015 Jan;9(1):25-30.

PMID:25599733

Abstract

INTRODUCTION

Nephrin and podocin proteins, encoded by NPHS1 and NPHS2 genes, are essential for the integrity of the glomerular filter. The present study was aimed to investigate whether NPHS1 rs437168 and NPHS2 rs61747728 genetic variants are involved in the susceptibility to nephrotic syndrome (NS).

MATERIALS AND METHODS

This case-control study was performed on 108 children with NS and 97 healthy children. Genomic DNA was extracted from whole blood using the salting-out method. Polymorphism of the NPHS1 rs437168 and NPHS2 rs61747728 were detected by amplification refractory mutation system- and tetra primers amplification refractory mutation system-polymerase chain reaction, respectively.

RESULTS

The results showed that the NPHS1 rs437168 GA as well as GA+AA genotypes increased the risk of NS in comparison with GG genotype (odds ratio, 4.76, 95% confidence interval, 2.31 to 9.80; P < .001 and odds ratio, 4.57; 95% confidence interval, 2.31 to 9.04, ; P < .001, respectively). The A allele was associated with increased risk of NS (odds ratio, 3.53; 95% confidence interval, 1.94 to 6.42, ; P < .001) in comparison to the G allele. No association was observed between NPHS2 rs61747728 polymorphism and NS.

CONCLUSIONS

Our findings indicate that NPHS1 rs437168, but not NPHS2 rs61747728 variant, is associated with NS.

摘要

引言

由NPHS1和NPHS2基因编码的nephrin和podocin蛋白对于肾小球滤过屏障的完整性至关重要。本研究旨在探讨NPHS1 rs437168和NPHS2 rs61747728基因变异是否与肾病综合征（NS）的易感性有关。

材料与方法

本病例对照研究纳入了108例NS患儿和97例健康儿童。采用盐析法从全血中提取基因组DNA。分别通过扩增阻滞突变系统和四引物扩增阻滞突变系统-聚合酶链反应检测NPHS1 rs437168和NPHS2 rs61747728的多态性。

结果

结果显示，与GG基因型相比，NPHS1 rs437168的GA以及GA + AA基因型增加了NS的发病风险（比值比，4.76，95%置信区间，2.31至9.80；P <.001；比值比，4.57；95%置信区间，2.31至9.04；P <.001）。与G等位基因相比，A等位基因与NS发病风险增加相关（比值比，3.53；95%置信区间，1.94至6.42；P <.001）。未观察到NPHS2 rs61747728多态性与NS之间存在关联。