|Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy|
|Zhu, Li; Yu, Lei; Wang, Chen-Dan; Lv, Ji-Cheng; Li, Gui-Sen; Zhang, Hong; Wang, Hai-Yan|
|关键词||immunoglobulin A nephropathy minimal change disease NPHS2 proteinuria|
|WOS标题词||Science & Technology|
|类目[WOS]||Urology & Nephrology|
|研究领域[WOS]||Urology & Nephrology|
|关键词[WOS]||FOCAL SEGMENTAL GLOMERULOSCLEROSIS ; GLOMERULAR SLIT DIAPHRAGM ; IGA NEPHROPATHY ; MUTATION NOMENCLATURE ; NEPHROTIC SYNDROME ; LINKAGE PHASE ; PODOCIN ; PROGRESSION ; POPULATION ; NEPHRIN|
Proteinuria varies in different glomerular diseases and even the same one. Podocin, encoded by gene NPHS2, is important in maintaining the integrity of slit diaphragm structure and avoiding proteinuria. Presently, case-control association studies were performed to investigate the genetic effect of variants in NPHS2 in a mass proteinuric glomerulopathy, minimal change disease (MCD) at first, followed by further investigation in immunoglobulin A nephropathy (IgAN).
At first, 214 northern Chinese patients with MCD and 493 geographically-matched healthy controls were enrolled. Variants of the NPHS2 were screened. SNP-2 (rs3829795:C > T, c.-670C > T) and SNP-5 (rs3738423:C > T, c.288C > T) were selected as tagging single nucleotide polymorphisms (SNP) and haplotypes were reconstructed. Association was analyzed in MCD patients. Then, the identified SNP site was analyzed in IgAN patients with mild histological changes (Haas subclass I and II).
The C allele and CC genotype frequencies at the SNP-2 site, as well as the frequency of haplotype CC, were significantly lower in MCD patients than in healthy controls. Furthermore, they were also associated with the degree of proteinuria in MCD patients. But in IgAN patients, no such association was identified.
The study suggested the polymorphism and haplotype of NPHS2 gene were associated with the genetic susceptibility and also the degree of proteinuria to MCD. Proteinuria in MCD and IgAN might occur through different mechanisms.
|作者单位||Peking Univ First Hosp, Peking Univ Inst Nephrol, Dept Internal Med, Renal Div,Key Lab Renal Dis,Minist Hlth China, Beijing 100034, Peoples R China|
|Zhu, Li,Yu, Lei,Wang, Chen-Dan,et al. Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy[J]. NEPHROLOGY,2009,14(8):728-734.|
|APA||Zhu, Li.,Yu, Lei.,Wang, Chen-Dan.,Lv, Ji-Cheng.,Li, Gui-Sen.,...&Wang, Hai-Yan.(2009).Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy.NEPHROLOGY,14(8),728-734.|
|MLA||Zhu, Li,et al."Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy".NEPHROLOGY 14.8(2009):728-734.|