Evidence that deletion at FCGR3B is a risk factor for systemic sclerosis
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3146826
- author
- organization
- publishing date
- 2012
- type
- Contribution to journal
- 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
- pmid:22551723
- 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
- 2016-04-01 09:50:26
- date last changed
- 2022-04-11 23:22:53
@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 <= 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.}}, 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}}, keywords = {{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}}, doi = {{10.1038/gene.2012.15}}, volume = {{13}}, year = {{2012}}, }