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Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis

McKinney, C.; Broen, J. C. A.; Vonk, M. C.; Beretta, L.; Hesselstrand, Roger LU ; Hunzelmann, N.; Riemekasten, G.; Scorza, R.; Simeon, C. P. and Fonollosa, V., et al. (2012) In Genes and Immunity 13(6). p.458-460
Abstract
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... (More)
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. (Less)
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publication status
published
subject
keywords
systemic sclerosis, FCGR3B, copy number, polymorphism, association
in
Genes and Immunity
volume
13
issue
6
pages
458 - 460
publisher
Nature Publishing Group
external identifiers
  • wos:000308455000003
  • scopus:84865645411
ISSN
1476-5470
DOI
10.1038/gene.2012.15
language
English
LU publication?
yes
id
90a621a7-8a2f-4c70-ae29-d4295496cd02 (old id 3146826)
date added to LUP
2012-11-01 10:36:42
date last changed
2017-10-22 03:00:59
@article{90a621a7-8a2f-4c70-ae29-d4295496cd02,
  abstract     = {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 &lt;= 1 was a significant risk factor for SSc (OR = 1.55 (1.13-2.14), P = 0.007) relative to CN &gt;= 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.},
  author       = {McKinney, C. and Broen, J. C. A. and Vonk, M. C. and Beretta, L. and Hesselstrand, Roger and Hunzelmann, N. and Riemekasten, G. and Scorza, R. and Simeon, C. P. and Fonollosa, V. and Carreira, P. E. and Ortego-Centeno, N. and Gonzalez-Gay, M. A. and Airo, P. and Coenen, M. and Martin, J. and Radstake, T. R. D. J. and Merriman, T. R.},
  issn         = {1476-5470},
  keyword      = {systemic sclerosis,FCGR3B,copy number,polymorphism,association},
  language     = {eng},
  number       = {6},
  pages        = {458--460},
  publisher    = {Nature Publishing Group},
  series       = {Genes and Immunity},
  title        = {Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis},
  url          = {http://dx.doi.org/10.1038/gene.2012.15},
  volume       = {13},
  year         = {2012},
}