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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
刊名NEPHROLOGY
2009-12-01
DOI10.1111/j.1440-1797.2009.01109.x
14期:8页:728-734
收录类别SCI
文章类型Article
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
英文摘要

Background:

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).

Methods:

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).

Results:

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.

Conclusion:

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.

语种英语
WOS记录号WOS:000272306800005
项目编号30670981 ; 30825021 ; 200802052
资助机构National Nature Science Foundation of China ; Foundation of Ministry of Health of China
引用统计
被引频次:2[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/59432
专题北京大学第一临床医学院_大内科
北京大学第二临床医学院_肾内科
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
推荐引用方式
GB/T 7714
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.
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