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Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
Li, Gui-Sen1,2,3,4,5; Nie, Guang-Jun1,2; Zhang, Hong1,2; Lv, Ji-Cheng1,2; Shen, Yan5; Wang, Hai-Yan1,2
刊名BMC MEDICAL GENETICS
2009-09-24
DOI10.1186/1471-2350-10-101
10
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
研究领域[WOS]Genetics & Heredity
关键词[WOS]MESANGIAL CELLS ; GLYCOSYLATION ; BETA-1,3-GALACTOSYLTRANSFERASE ; PATHOGENESIS
英文摘要

Background: The deficiency of beta 1,3 galactose in hinge region of IgA1 molecule played a pivotal role in pathogenesis of IgA nephropathy (IgAN). Cosmc, encoded by C1GALT1C1 gene, was indispensable to beta 1,3 galactosylation of IgA1. We designed a serial study to investigate the relationship between the mutations of C1GALT1C1 gene and the genetic susceptibility to IgAN.

Methods: Nine hundred and thirty-eight subjects, including 661 patients with IgAN and 277 healthy controls were enrolled in the study. Firstly, single nucleotide polymorphisms (SNPs) in the promoter region of C1GALT1C1 gene were screened. Then the c.-347-190G> A was analyzed by PCR-restriction fragment length polymorphism (PCR-RFLP) for further case-control association analysis. Secondly the somatic mutations of DNAs from peripheral blood B lymphocytes were detected in 15 patients and 7 normal controls.

Results: No significant association was observed between the different alleles or genotypes of c.347-190G>A and IgAN. The patients with different genotypes of C1GALT1C1 gene did not significantly associate with clinical manifestations, including hematuria, proteinuria, and serum creatinine of patients with IgAN. There was no somatic mutation detected in total 202 clones of 22 individuals.

Conclusion: The c.-347-190G>A polymorphism and the somatic mutation of encoding region of C1GALT1C1 gene were not significantly related to the genetic susceptibility to IgAN in Northern Chinese population.

语种英语
WOS记录号WOS:000271285100001
项目编号30670981 ; 985-2007-113
资助机构National Nature Science Foundation ; Capital Medical Science Foundation ; Foundation of Ministry of Education, People&prime ; s Republic of China
引用统计
被引频次:1[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/400002259/51432
专题北京大学第一临床医学院_肾脏内科
作者单位1.Chinese Natl Human Genome Ctr, Beijing 100176, Peoples R China
2.Peking Univ, Inst Nephrol, Beijing 100034, Peoples R China
3.Sichuan Med Sci Acad, Div Renal, Chengdu 610072, Peoples R China
4.Sichuan Prov Peoples Hosp, Chengdu 610072, Peoples R China
5.Peking Univ, Div Renal, Dept Internal Med, Hosp 1, Beijing 100034, Peoples R China
推荐引用方式
GB/T 7714
Li, Gui-Sen,Nie, Guang-Jun,Zhang, Hong,et al. Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?[J]. BMC MEDICAL GENETICS,2009,10.
APA Li, Gui-Sen,Nie, Guang-Jun,Zhang, Hong,Lv, Ji-Cheng,Shen, Yan,&Wang, Hai-Yan.(2009).Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?.BMC MEDICAL GENETICS,10.
MLA Li, Gui-Sen,et al."Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?".BMC MEDICAL GENETICS 10(2009).
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