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学科主题: 临床医学
题名:
Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis
作者: Zhou, Xu-Jie1,2; Cheng, Fa-Juan1,2; Lv, Ji-Cheng1,2; Luo, Huan1,2; Yu, Feng1,2; Chen, Min1,2; Zhao, Ming-Hui1,2; Zhang, Hong1,2
关键词: DEFB4 ; gene copy number ; SLE ; AASV
刊名: RHEUMATOLOGY
发表日期: 2012-06-01
DOI: 10.1093/rheumatology/ker419
卷: 51, 期:6, 页:992-995
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Rheumatology
研究领域[WOS]: Rheumatology
关键词[WOS]: SYSTEMIC-LUPUS-ERYTHEMATOSUS ; BETA-DEFENSIN 2 ; CROHNS-DISEASE ; EXPRESSION ; GENES ; BLOOD ; CELLS
英文摘要:

Objective. Evidence shows that defensins are involved in the pathogenesis of SLE and ANCA-associated small vasculitis (AASV). The copy number variation of DEFB4 has been proposed to be susceptible to inflammatory disorders. This study aims to investigate whether the DEFB4 genomic copy number variations associate with the susceptibility to these two autoimmune diseases.

Methods. A total of 1178 Chinese people were enrolled, including Panel 1 comprising 240 SLE patients and 275 matched controls, Panel 2 comprising 303 SLE patients and 248 matched controls and Panel 3 with 112 AASV patients. The DEFB4 copy number was typed by a paralogue ratio test (PRT), and all the subjects in Panel 1 were also typed using the restriction enzyme digest variant ratio (REDVR) for validation.

Results. The results from PRT and REDVR were highly concordant (R = 0.911, P = 3.85 x 10(-199)) and allowed copy numbers to be assigned into integer classes with high confidence. Comparison of mean DEFB4 copy number revealed a small increase in cases with SLE both in Panel 1 (P = 0.063) and Panel 2 (P = 0.017). When pooling Panels 1 and 2 together, the association was reinforced (P = 0.002) in SLE. Such association was also observed in AASV (P = 0.009).

Conclusion. We found that a higher DEFB4 gene copy number was associated with both SLE and AASV.

语种: 英语
所属项目编号: 30801022 ; 30825021 ; 81021004
项目资助者: National Natural Science Foundation of China ; Natural Science Fund of China
WOS记录号: WOS:000304200100008
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/60370
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.Minist Hlth China, Key Lab Renal Dis, Beijing, Peoples R China
2.Peking Univ, Inst Nephrol, Hosp 1, Div Renal, Beijing 100034, Peoples R China

Recommended Citation:
Zhou, Xu-Jie,Cheng, Fa-Juan,Lv, Ji-Cheng,et al. Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis[J]. RHEUMATOLOGY,2012,51(6):992-995.
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