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BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians

Rueda, B.; Gourh, P.; Broen, J.; Agarwal, S. K.; Simeon, C.; Ortego-Centeno, N.; Vonk, M. C.; Coenen, M.; Riemekasten, G. and Hunzelmann, N., et al. (2010) In Annals of the Rheumatic Diseases 69(4). p.700-705
Abstract
Objective To investigate the possible association of the BANK1 gene with genetic susceptibility to systemic sclerosis (SSc) and its subphenotypes. Methods A large multicentre case-control association study including 2380 patients with SSc and 3270 healthy controls from six independent case-control sets of Caucasian ancestry ( American, Spanish, Dutch, German, Swedish and Italian) was conducted. Three putative functional BANK1 polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) were selected as genetic markers and genotyped by Taqman 5' allelic discrimination assay. Results A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and... (More)
Objective To investigate the possible association of the BANK1 gene with genetic susceptibility to systemic sclerosis (SSc) and its subphenotypes. Methods A large multicentre case-control association study including 2380 patients with SSc and 3270 healthy controls from six independent case-control sets of Caucasian ancestry ( American, Spanish, Dutch, German, Swedish and Italian) was conducted. Three putative functional BANK1 polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) were selected as genetic markers and genotyped by Taqman 5' allelic discrimination assay. Results A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and pooled OR=1.14, 95% CI 1.05 to 1.25; p=0.003, respectively), whereas the rs3733197 genetic variant showed no statistically significant deviation. Stratification for cutaneous SSc phenotype showed that the BANK1 rs10516487 G, rs17266594 T and rs3733197 G alleles were strongly associated with susceptibility to diffuse SSc (dcSSc) (pooled OR=1.20, 95% CI 1.05 to 1.37, p=0.005; pooled OR=1.23, 95% CI 1.08 to 1.41, p=0.001; pooled OR=1.15, 95% CI 1.02 to 1.31, p=0.02, respectively). Similarly, stratification for specific SSc autoantibodies showed that the association of BANK1 rs10516487, rs17266594 and rs3733197 polymorphisms was restricted to the subgroup of patients carrying anti-topoisomerase I antibodies (pooled OR=1.20, 95% CI 1.02 to 1.41, p=0.03; pooled OR=1.24, 95% CI 1.05 to 1.46, p=0.01; pooled OR=1.26, 95% CI 1.07 to 1.47, p=0.004, respectively). Conclusion The results suggest that the BANK1 gene confers susceptibility to SSc in general, and specifically to the dcSSc and anti-topoisomerase I antibody subsets. (Less)
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published
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Annals of the Rheumatic Diseases
volume
69
issue
4
pages
700 - 705
publisher
British Medical Association
external identifiers
  • wos:000275723800015
  • scopus:77950315193
ISSN
1468-2060
DOI
10.1136/ard.2009.118174
language
English
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yes
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bff90fb5-c521-4700-8146-a13cf8751138 (old id 1588141)
date added to LUP
2010-04-22 10:39:31
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2018-07-01 04:05:40
@article{bff90fb5-c521-4700-8146-a13cf8751138,
  abstract     = {Objective To investigate the possible association of the BANK1 gene with genetic susceptibility to systemic sclerosis (SSc) and its subphenotypes. Methods A large multicentre case-control association study including 2380 patients with SSc and 3270 healthy controls from six independent case-control sets of Caucasian ancestry ( American, Spanish, Dutch, German, Swedish and Italian) was conducted. Three putative functional BANK1 polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) were selected as genetic markers and genotyped by Taqman 5' allelic discrimination assay. Results A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and pooled OR=1.14, 95% CI 1.05 to 1.25; p=0.003, respectively), whereas the rs3733197 genetic variant showed no statistically significant deviation. Stratification for cutaneous SSc phenotype showed that the BANK1 rs10516487 G, rs17266594 T and rs3733197 G alleles were strongly associated with susceptibility to diffuse SSc (dcSSc) (pooled OR=1.20, 95% CI 1.05 to 1.37, p=0.005; pooled OR=1.23, 95% CI 1.08 to 1.41, p=0.001; pooled OR=1.15, 95% CI 1.02 to 1.31, p=0.02, respectively). Similarly, stratification for specific SSc autoantibodies showed that the association of BANK1 rs10516487, rs17266594 and rs3733197 polymorphisms was restricted to the subgroup of patients carrying anti-topoisomerase I antibodies (pooled OR=1.20, 95% CI 1.02 to 1.41, p=0.03; pooled OR=1.24, 95% CI 1.05 to 1.46, p=0.01; pooled OR=1.26, 95% CI 1.07 to 1.47, p=0.004, respectively). Conclusion The results suggest that the BANK1 gene confers susceptibility to SSc in general, and specifically to the dcSSc and anti-topoisomerase I antibody subsets.},
  author       = {Rueda, B. and Gourh, P. and Broen, J. and Agarwal, S. K. and Simeon, C. and Ortego-Centeno, N. and Vonk, M. C. and Coenen, M. and Riemekasten, G. and Hunzelmann, N. and Hesselstrand, Roger and Tan, F. K. and Reveille, J. D. and Assassi, S. and Garcia-Hernandez, F. J. and Carreira, P. and Camps, M. and Fernandez-Nebro, A. and Garcia de la Pena, P. and Nearney, T. and Hilda, D. and Gonzalez-Gay, M. A. and Airo, P. and Beretta, L. and Scorza, R. and Radstake, T. R. D. J. and Mayes, M. D. and Arnett, F. C. and Martin, J.},
  issn         = {1468-2060},
  language     = {eng},
  number       = {4},
  pages        = {700--705},
  publisher    = {British Medical Association},
  series       = {Annals of the Rheumatic Diseases},
  title        = {BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians},
  url          = {http://dx.doi.org/10.1136/ard.2009.118174},
  volume       = {69},
  year         = {2010},
}