BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
(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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- author
- organization
- publishing date
- 2010
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Annals of the Rheumatic Diseases
- volume
- 69
- issue
- 4
- pages
- 700 - 705
- publisher
- BMJ Publishing Group
- external identifiers
-
- wos:000275723800015
- scopus:77950315193
- pmid:19815934
- ISSN
- 1468-2060
- DOI
- 10.1136/ard.2009.118174
- language
- English
- LU publication?
- yes
- id
- bff90fb5-c521-4700-8146-a13cf8751138 (old id 1588141)
- date added to LUP
- 2016-04-01 14:56:32
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- 2022-04-06 21:13:44
@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 = {{BMJ Publishing Group}},
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}},
doi = {{10.1136/ard.2009.118174}},
volume = {{69}},
year = {{2010}},
}