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学科主题: 临床医学
题名:
Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients
作者: Cheng, Fa-juan; Zhou, Xu-jie; Zhao, Yan-feng; Zhao, Ming-hui; Zhang, Hong
关键词: DNA Copy Number Variations ; Alpha-defensins ; Systemic Lupus Erythematosus ; HapMap Project
刊名: GENE
发表日期: 2013-04-01
DOI: 10.1016/j.gene.2013.01.011
卷: 517, 期:2, 页:158-163
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]: GENOME-WIDE ASSOCIATION ; HAN POPULATION ; SUSCEPTIBILITY ; POLYMORPHISMS ; INTERFERON ; EXPRESSION ; VARIANTS ; DISEASE ; FCGR3B ; ITGAM
英文摘要:

Neutrophil extracellular traps (NETs) were closely associated with activation of type I interferon (IFN) pathway in systemic lupus elythematosus (SLE). We aimed to study the genetic basis of NETs-DEFA1A3 copy number variations (CNV) in SLE and HapMap CHB + JPT populations by quantitative real-time PCR and whole genome sequences data. DEFA1A3 CNs did not differ significantly between SLE patients and controls. DEFA1A3 CNs ranged from 3 to 11 in CHB and 4 to 16 in JPT. The median of DEFA1A3 CNV of CHB (6 copies) was significantly lower than that of JPT (9 copies). Associations of genotype of tag SNP rs2738113 with DEFA1A3 CNs and mRNA expression of IFN alpha were observed in CHB and JET populations. Our data provided a genetic reference of DEFA1A3 CNV for further studies and suggested that the genetic pathogenesis of NETs, as well as DEFA1A3 in SLE should be further evaluated, specially in different populations. (C) 2013 Elsevier B.V. All rights reserved.

语种: 英语
所属项目编号: 2012CB517700 ; 81200524 ; 81021004
项目资助者: Major State Basic Research Development Program of China (973 program) ; National Natural Science Foundation of China ; Natural Science Fund of China
WOS记录号: WOS:000315839500002
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55334
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, Renal Div,Dept Med, Beijing 100034, Peoples R China
2.Peking Univ, Minist Educ, Key Lab Chron Kidney Dis Prevent, Beijing 100034, Peoples R China

Recommended Citation:
Cheng, Fa-juan,Zhou, Xu-jie,Zhao, Yan-feng,et al. Alpha-defensin DEFA1A3 gene copy number variation in Asians and its genetic association study in Chinese systemic lupus erythematosus patients[J]. GENE,2013,517(2):158-163.
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