IR@PKUHSC  > 北京大学第一临床医学院  > 肾脏内科
学科主题临床医学
Interaction between variants of two glycosyltransferase genes in IgA nephropathy
Zhu, Li2; Tang, Wanwan3,4; Li, Guisen2; Lv, Jicheng2; Ding, Jiaxiang2; Yu, Lei2; Zhao, Minghui2; Li, Yanda3,4; Zhang, Xuegong3,4; Shen, Yan5; Zhang, Hong1,2; Wang, Haiyan2
关键词C1GALT1 IgAN interactive effect ST6GALNAC2
刊名KIDNEY INTERNATIONAL
2009-07-01
DOI10.1038/ki.2009.99
76期:2页:190-198
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Urology & Nephrology
资助者NSFC ; Foundation of Ministry of Education of China ; Ministry of Health, P. R. China ; National Basic Research Program of China ; NSFC ; Foundation of Ministry of Education of China ; Ministry of Health, P. R. China ; National Basic Research Program of China
研究领域[WOS]Urology & Nephrology
关键词[WOS]ABERRANTLY GLYCOSYLATED IGA ; HUMAN MESANGIAL CELLS ; SERUM IGA1 ; GLOMERULONEPHRITIS ; SUSCEPTIBILITY ; DISEASE ; AGGREGATION ; MOLECULES ; LINKAGE
英文摘要

Increasing evidence points to the importance of aberrant O-glycosylated immunoglobulin A1 (IgA1) in the pathogenesis of IgA nephropathy (IgAN), a disease widely considered to be a polygenic disorder. We earlier found that haplotypes in two key glycosyltransferase genes, C1GALT1 and ST6GALNAC2, were associated with susceptibility to IgAN. Here we measured the genetic interaction of variants in C1GALT1 and ST6GALNAC2 by applying FAMHAP software to analyze haplotype-haplotype interaction in IgAN. As confirmation, we also used a novel divergence-based multi-locus algorithm (DBMA) approach to determine interactions between single-nucleotide polymorphisms. Haplotype-haplotype combinations in C1GALT1 and ST6GALNAC2 were significantly associated with a predisposition for IgAN and with the estimated glomerular filtration rate (eGFR) of patients. Analogously, results from DBMA found a five-locus combination, two in ST6GALNAC2 and three in C1GALT1, which was associated with IgAN predisposition, eGFR, and renal outcome of patients with IgAN. In addition, patients with a high risk had significantly more exposed N-acetylgalactosamine on their IgA1 than did patients with a lower risk of developing this disease. Our findings suggest that potential genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN. Kidney International (2009) 76, 190-198; doi: 10.1038/ki.2009.99; published online 8 April 2009

语种英语
所属项目编号30825021 ; 30670981 ; 60234020 ; 60572086 ; 30625012 ; 985-2007-113 ; 200802052 ; 2004CB518605
资助者NSFC ; Foundation of Ministry of Education of China ; Ministry of Health, P. R. China ; National Basic Research Program of China ; NSFC ; Foundation of Ministry of Education of China ; Ministry of Health, P. R. China ; National Basic Research Program of China
WOS记录号WOS:000267496900011
Citation statistics
Cited Times:15[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/62230
Collection北京大学第一临床医学院_肾脏内科
作者单位1.Minist Hlth China, Key Lab Renal Dis, Beijing, Peoples R China
2.Chinese Natl Human Genome Ctr, Beijing, Peoples R China
3.Peking Univ, Hosp 1, Div Renal, Dept Internal Med,Inst Nephrol, Beijing 100034, Peoples R China
4.Tsinghua Univ, TNLIST Dept Automat, MOE Key Lab Bioinformat, Beijing 100084, Peoples R China
5.Tsinghua Univ, TNLIST Dept Automat, Bioinformat Div, Beijing 100084, Peoples R China
Recommended Citation
GB/T 7714
Zhu, Li,Tang, Wanwan,Li, Guisen,et al. Interaction between variants of two glycosyltransferase genes in IgA nephropathy[J]. KIDNEY INTERNATIONAL,2009,76(2):190-198.
APA Zhu, Li.,Tang, Wanwan.,Li, Guisen.,Lv, Jicheng.,Ding, Jiaxiang.,...&Wang, Haiyan.(2009).Interaction between variants of two glycosyltransferase genes in IgA nephropathy.KIDNEY INTERNATIONAL,76(2),190-198.
MLA Zhu, Li,et al."Interaction between variants of two glycosyltransferase genes in IgA nephropathy".KIDNEY INTERNATIONAL 76.2(2009):190-198.
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