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学科主题: 临床医学
题名:
Genetic studies of IgA nephropathy: past, present, and future
作者: Kiryluk, Krzysztof1; Julian, Bruce A.2,3; Wyatt, Robert J.4; Scolari, Francesco5; Zhang, Hong6; Novak, Jan2,3; Gharavi, Ali G.1
关键词: IgA nephropathy ; Genetics ; Hereditary disease ; IgA1 glycosylation ; Genome-wide association study
刊名: PEDIATRIC NEPHROLOGY
发表日期: 2010-11-01
DOI: 10.1007/s00467-010-1500-7
卷: 25, 期:11, 页:2257-2268
收录类别: SCI
文章类型: Review
WOS标题词: Science & Technology
类目[WOS]: Pediatrics ; Urology & Nephrology
研究领域[WOS]: Pediatrics ; Urology & Nephrology
关键词[WOS]: GENOME-WIDE ASSOCIATION ; COPY-NUMBER VARIATION ; SYSTEMIC-LUPUS-ERYTHEMATOSUS ; IMMUNOGLOBULIN-A NEPHROPATHY ; ABERRANTLY GLYCOSYLATED IGA1 ; GALACTOSE-DEFICIENT IGA1 ; O-GLYCOSYLATION ; STROBE STATEMENT ; COMMON DISEASES ; SUSCEPTIBILITY
英文摘要:

Immunoglobulin A nephropathy (IgAN) is the most common form of primary glomerulonephritis worldwide and an important cause of kidney disease in young adults. Highly variable clinical presentation and outcome of IgAN suggest that this diagnosis may encompass multiple subsets of disease that are not distinguishable by currently available clinical tools. Marked differences in disease prevalence between individuals of European, Asian, and African ancestry suggest the existence of susceptibility genes that are present at variable frequencies in these populations. Familial forms of IgAN have also been reported throughout the world but are probably underrecognized because associated urinary abnormalities are often intermittent in affected family members. Of the many pathogenic mechanisms reported, defects in IgA1 glycosylation that lead to formation of immune complexes have been consistently demonstrated. Recent data indicates that these IgA1 glycosylation defects are inherited and constitute a heritable risk factor for IgAN. Because of the complex genetic architecture of IgAN, the efforts to map disease susceptibility genes have been difficult, and no causative mutations have yet been identified. Linkage-based approaches have been hindered by disease heterogeneity and lack of a reliable noninvasive diagnostic test for screening family members at risk of IgAN. Many candidate-gene association studies have been published, but most suffer from small sample size and methodological problems, and none of the results have been convincingly validated. New genomic approaches, including genome-wide association studies currently under way, offer promising tools for elucidating the genetic basis of IgAN.

语种: 英语
所属项目编号: KL2 RR024157 ; DK082753 ; DK078244 ; DK080301 ; DK075868 ; DK071802 ; DK077279
项目资助者: American Philosophical Society ; National Center for Research Resources (NCRR) ; National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
WOS记录号: WOS:000281725200006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58816
Appears in Collections:北京大学第一临床医学院_肾脏内科_期刊论文

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作者单位: 1.Columbia Univ, Dept Med, Div Nephrol, Coll Phys & Surg, New York, NY 10032 USA
2.Univ Alabama, Dept Microbiol, Birmingham, AL 35294 USA
3.Univ Alabama, Dept Med, Birmingham, AL 35294 USA
4.Univ Tennessee, Ctr Hlth Sci, Dept Pediat,Div Pediat Nephrol, Childrens Fdn Res Ctr Le Bonheur,Childrens Med Ct, Memphis, TN 38163 USA
5.Univ & Spedali Civili, Div Nephrol, Brescia, Italy
6.Peking Univ, Div Renal, Hosp 1, Inst Nephrol, Beijing 100871, Peoples R China

Recommended Citation:
Kiryluk, Krzysztof,Julian, Bruce A.,Wyatt, Robert J.,et al. Genetic studies of IgA nephropathy: past, present, and future[J]. PEDIATRIC NEPHROLOGY,2010,25(11):2257-2268.
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