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学科主题: 临床医学
题名:
The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese
作者: Yang Jiyun2,3,4,5; Li Guisen1,2; Zhu Li6,7,8; Shi Yi2,3,4,5; Lv Jicheng6,7,8; Lu Fang2,3,4,5; Liu Xiaoqi2,3,4,5; Ma Shi2,3,4,5; Jing Cheng2,3,4,5; Lin Ying2,3,4,5; Wang Haiyan6,7,8; Wang Li1,2; Zhang Hong6,7,8; Yang Zhenglin2,3,4,5
关键词: IgA nephropathy ; HLA-DRB1 ; Association study
刊名: BMC MEDICAL GENETICS
发表日期: 2012-05-14
DOI: 10.1186/1471-2350-13-33
卷: 13
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]: IMMUNOGLOBULIN-A NEPHROPATHY ; SINGLE-NUCLEOTIDE POLYMORPHISMS ; MAJOR HISTOCOMPATIBILITY COMPLEX ; JAPANESE PATIENTS ; RECEPTOR GENE ; SUSCEPTIBILITY ; HLA ; PROGRESSION ; POPULATION ; ANTIGEN
英文摘要:

Background: Immunoglobulin A nephropathy (IgAN), an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits, is the most common primary glomerular disease worldwide and a significant cause of end-stage renal disease. Familial clustering of patients with IgAN suggests a genetic predisposition.

Methods: In this study, 192 patients with IgAN and 192 normal controls in the Sichuan cohort and 935 patients with IgAN and 2,103 normal controls in the Beijing cohort were investigated. HLA-DRB1*01-DRB1*10 specificities were genotyped by the PCR-SSP technique in both cohorts. Based on the HLA-DRB1*04-positive results, the subtypes of HLA-DRB1*04 were analyzed using sequencing-based typing (SBT) in 291 IgAN cases and 420 matched controls.

Results: The frequency of HLA-DRB1*04 in the IgAN group was significantly higher than that in the control group (0.129 vs. 0.092, P = 8.29 x 10(-5), odds ratio (OR) = 1.381, 95% confidence interval (CI) 1.178-1.619). Other alleles at the HLA-DRB1 locus were observed with no significant differences between the case and control groups. The dominant alleles of the HLA-DRB1*04 subtypes were DRB1*0405 in both cohorts. The frequencies of HLA-DRB1*0405 and 0403 were significantly increased in the patients compared to healthy subjects.

Conclusion: HLA-DRB1*04 was significantly associated with primary IgAN in Chinese population. This result implies that HLA-DRB1 gene plays a major role in primary IgAN.

语种: 英语
所属项目编号: 04JY029-045 ; 05ZQ026-018 ; 09ZQ026-034
项目资助者: Department of Science and Technology of Sichuan Province ; Sichuan Academy of Medical Sciences &amp ; Sichuan Provincial People&prime ; s Hospital ; Sichuan Province Science and Technology Foundation for Youth
WOS记录号: WOS:000307079300001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/51026
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.Sichuan Acad Med Sci, Div Renal, Chengdu, Peoples R China
2.Sichuan Prov Peoples Hosp, Chengdu 617002, Sichuan, Peoples R China
3.Sichuan Acad Med Sci, Ctr Human Mol Biol & Genet, Chengdu 617002, Sichuan, Peoples R China
4.Sichuan Acad Med Sci, Key Lab Human Dis Gene Study Sichuan Prov, Chengdu 617002, Sichuan, Peoples R China
5.Inst Lab Med, Chengdu, Peoples R China
6.Peking Univ, Inst Nephrol, Beijing 100871, Peoples R China
7.Peking Univ, Div Renal, Hosp 1, Beijing 100871, Peoples R China
8.Minist Hlth China, Key Lab Renal Dis, Beijing, Peoples R China

Recommended Citation:
Yang Jiyun,Li Guisen,Zhu Li,et al. The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese[J]. BMC MEDICAL GENETICS,2012,13.
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