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学科主题: 临床医学
题名:
Genetic effect of the NPHS2 gene variants on proteinuria in minimal change disease and immunoglobulin A nephropathy
作者: 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
发表日期: 2009-12-01
DOI: 10.1111/j.1440-1797.2009.01109.x
卷: 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
所属项目编号: 30670981 ; 30825021 ; 200802052
项目资助者: National Nature Science Foundation of China ; Foundation of Ministry of Health of China
WOS记录号: WOS:000272306800005
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59432
Appears in Collections:北京大学第一临床医学院_大内科_期刊论文

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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

Recommended Citation:
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.
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