期刊
GENES AND IMMUNITY
卷 13, 期 6, 页码 458-460出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2012.15
关键词
systemic sclerosis; FCGR3B; copy number; polymorphism; association
资金
- Health Research Council of NZ
- NZ Lottery Health
- Spanish Ministry of Science [SAF2009-11110]
- Junta de Andalucia, Spain [CTS-4977]
- Redes Tematicas de Investigacion Cooperativa Sanitaria Programme
- (RIER) from Instituto de Salud Carlos III (ISCIII), Spain [RD08/0075]
- Fondo Europeo de Desarrollo Regional (FEDER)
There is increasing evidence that gene copy number (CN) variation influences clinical phenotype. The low-affinity Fc receptor 3B (FCGR3B) located in the FCGR gene cluster is a CN polymorphic gene involved in the recruitment of polymorphonuclear neutrophils to sites of inflammation and their activation. Given the genetic overlap between systemic lupus erythematosus and systemic sclerosis (SSc) and the strong evidence for FCGR3B CN in the pathology of SLE, we hypothesised that FCGR3B gene dosage influences susceptibility to SSc. We obtained FCGR3B deletion status in 777 European Caucasian cases and 1000 controls. There was an inverse relationship between FCGR3B CN and disease susceptibility. CN of <= 1 was a significant risk factor for SSc (OR = 1.55 (1.13-2.14), P = 0.007) relative to CN >= 2. Although requiring replication, these results suggest that impaired immune complex clearance arising from FCGR3B deficiency contributes to the pathology of SSc, and FCGR3B CN variation is a common risk factor for systemic autoimmunity.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据