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学科主题: 临床医学
题名:
Copy number variation of FCGR3A rather than FCGR3B and FCGR2B is associated with susceptibility to anti-GBM disease
作者: Zhou, Xu-jie1,2; Lv, Ji-cheng1,2; Bu, Ding-fang3; Yu, Lei1,2; Yang, Yan-rong1,2,4; Zhao, Juan1,2; Cui, Zhao1,2; Yang, Rui1,2; Zhao, Ming-hui1,2; Zhang, Hong1,2
关键词: anti-glomerular basement membrane antibody disease ; copy number variation ; FCGR3A
刊名: INTERNATIONAL IMMUNOLOGY
发表日期: 2010
DOI: 10.1093/intimm/dxp113
卷: 22, 期:1, 页:45-51
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Immunology
研究领域[WOS]: Immunology
关键词[WOS]: BASEMENT-MEMBRANE DISEASE ; FC-GAMMA RECEPTORS ; SYSTEMIC-LUPUS-ERYTHEMATOSUS ; NEPHROTOXIC NEPHRITIS ; GOODPASTURES-SYNDROME ; DEFICIENT MICE ; HUMAN GENOME ; GLOMERULONEPHRITIS ; GENE ; AUTOIMMUNITY
英文摘要:

Anti-glomerular basement membrane antibody disease (anti-GBM disease) is a rare disorder characteristic of universally poor outcome. Fc gamma receptors (Fc gamma Rs) play important roles in anti-GBM disease based on evidence from animal models. Copy number variation (CNV) influences disease susceptibility. The Fc gamma Rs genes show CNV, and CNV of the FCGR3B gene is associated with glomerulonephritis in systemic lupus erythematosus and anti-neutrophil cytoplasmic antibody-associated small vasculitis. Here, we investigated CNV of three FCGR genes, including two (FCGR3A and FCGR3B) for activating Fc gamma Rs and one (FCGR2B) for inhibitory Fc gamma R by duplex quantitative real-time PCR. Copy numbers were analyzed by Applied Biosystems CopyCaller Software v1.0. We first demonstrated the distribution of CNV of FCGR3A, FCGR3B and no CNV of FCGR2B in Chinese population (including 47 anti-GBM patients and 146 healthy controls). The frequency of CNV of FCGR3A was observed to be significantly higher than matched healthy controls (27.7 versus 12.3%, P = 0.013, odds ratio 1.21-6.10). Considering previous report about gene knock-out animal models and CNV effect of FCGR3A, we thus propose that CNV in members of FCGR family should have different roles in the pathogenesis of human anti-GBM disease.

语种: 英语
WOS记录号: WOS:000272931000006
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/58396
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, Inst Nephrol, Hosp 1, Div Renal, Beijing 100034, Peoples R China
2.Minist Hlth China, Key Lab Renal Dis, Beijing 100034, Peoples R China
3.Peking Univ, Hosp 1, Cent Res Inst, Beijing 100034, Peoples R China
4.ShanXi Med Univ, Hosp 2, Div Renal, Taiyuan 030001, Peoples R China

Recommended Citation:
Zhou, Xu-jie,Lv, Ji-cheng,Bu, Ding-fang,et al. Copy number variation of FCGR3A rather than FCGR3B and FCGR2B is associated with susceptibility to anti-GBM disease[J]. INTERNATIONAL IMMUNOLOGY,2010,22(1):45-51.
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