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Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy
Li, G-S; Zhang, H.; Lv, J-C; Shen, Y.; Wang, H-Y
关键词C1GALT1 polymorphism IgA nephropathy
刊名KIDNEY INTERNATIONAL
2007-03-01
DOI10.1038/sj.ki.5002088
71期:5页:448-453
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]SINGLE-NUCLEOTIDE POLYMORPHISMS ; LINKAGE DISEQUILIBRIUM ; GLYCOSYLATION ; BINDING ; BETA-1,3-GALACTOSYLTRANSFERASE ; IDENTIFICATION ; PATHOGENESIS ; DISEASE ; CLONING ; CELLS
英文摘要

IgA nephropathy (IgAN) is a polygenic disorder and the precise role of genetic factors remains elusive. Increasing evidences have implicated the aberrant galactosylation of IgA1 molecules in the pathogenesis of IgAN. The galactosyltransferase, core 1 beta 3-Gal-T, and its chaperone, Cosmc, play important roles in beta 1,3 glycosylation of IgA1 molecule. A case-control association study was performed to investigate the association between single-nucleotide polymorphisms (SNPs) of C1GALT1 and C1GALT1C1 genes and the susceptibility to IgAN. A total of 1164 subjects were enrolled, including 670 IgAN patients and 494 geographically matched healthy controls. Five SNPs, -734C/T, -465A/G, -330G/T, -292C/-, and 1365G/A in C1GALT1 were selected as tagging SNPs. The D allele and DD genotype of -292C/- in IgAN patients were significantly lower than in the controls (P < 0.01). The frequency of haplotype YATIG (Y = C or T) was significantly lower in patients than in controls (0.0719 vs 0.1168, P = 2.775 x 10(-4), odds ratio (OR) 0.70). The haplotype YAGDA (0.1236 vs 0.0791, P 3.815 x 10(-3), OR = 1.77) and YATDG (0.0840 vs 0.0298, P = 1.258 -10(-5), OR = 3.03) were significantly higher in patients than in controls. The present study suggested that the polymorphisms of C1GALT1 gene were associated with the genetic susceptibility to IgAN in Chinese population.

语种英语
WOS记录号WOS:000244387400016
引用统计
被引频次:52[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/400002259/64859
专题北京大学第一临床医学院_肾脏内科
作者单位1.Peking Univ, Hosp 1, Inst Nephrol, Dept Internal Med,Renal Div, Beijing 100034, Peoples R China
2.Chinese Natl Human Genome Ctr, Beijing, Peoples R China
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Li, G-S,Zhang, H.,Lv, J-C,et al. Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy[J]. KIDNEY INTERNATIONAL,2007,71(5):448-453.
APA Li, G-S,Zhang, H.,Lv, J-C,Shen, Y.,&Wang, H-Y.(2007).Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy.KIDNEY INTERNATIONAL,71(5),448-453.
MLA Li, G-S,et al."Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy".KIDNEY INTERNATIONAL 71.5(2007):448-453.
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