北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 北京大学第一临床医学院  > 肾脏内科  > 期刊论文
学科主题: 临床医学
题名:
Do the mutations of C1GALT1C1 gene play important roles in the genetic susceptibility to Chinese IgA nephropathy?
作者: 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
发表日期: 2009-09-24
DOI: 10.1186/1471-2350-10-101
卷: 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
所属项目编号: 30670981 ; 985-2007-113
项目资助者: National Nature Science Foundation ; Capital Medical Science Foundation ; Foundation of Ministry of Education, People&prime ; s Republic of China
WOS记录号: WOS:000271285100001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51432
Appears in Collections:北京大学第一临床医学院_肾脏内科_期刊论文

Files in This Item:

There are no files associated with this item.


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

Recommended Citation:
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.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Li, Gui-Sen]'s Articles
[Nie, Guang-Jun]'s Articles
[Zhang, Hong]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Li, Gui-Sen]‘s Articles
[Nie, Guang-Jun]‘s Articles
[Zhang, Hong]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace