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学科主题临床医学
Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis
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
2012-06-01
DOI10.1093/rheumatology/ker419
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
WOS记录号WOS:000304200100008
项目编号30801022 ; 30825021 ; 81021004
资助机构National Natural Science Foundation of China ; Natural Science Fund of China
引用统计
被引频次:19[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/400002259/60370
专题北京大学第一临床医学院_肾脏内科
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
推荐引用方式
GB/T 7714
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.
APA Zhou, Xu-Jie.,Cheng, Fa-Juan.,Lv, Ji-Cheng.,Luo, Huan.,Yu, Feng.,...&Zhang, Hong.(2012).Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis.RHEUMATOLOGY,51(6),992-995.
MLA Zhou, Xu-Jie,et al."Higher DEFB4 genomic copy number in SLE and ANCA-associated small vasculitis".RHEUMATOLOGY 51.6(2012):992-995.
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