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学科主题: 临床医学
题名:
Variants of C1GALT1 gene are associated with the genetic susceptibility to IgA nephropathy
作者: Li, G-S; Zhang, H.; Lv, J-C; Shen, Y.; Wang, H-Y
关键词: C1GALT1 ; polymorphism ; IgA nephropathy
刊名: KIDNEY INTERNATIONAL
发表日期: 2007-03-01
DOI: 10.1038/sj.ki.5002088
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/64859
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.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

Recommended Citation:
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.
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