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

Blanca Rueda*, P. Gourh, J. Broen, S. K. Agarwal, C. Simeon, N. Ortego-Centeno, M. C. Vonk, M. Coenen, G. Riemekasten, N. Hunzelmann, R. Hesselstrand, F. K. Tan, J. D. Reveille, S. Assassi, F. J. Garcia-Hernandez, P. Carreira, M. Camps, A. Fernandez-Nebro, P. Garcia De La Peña, T. NearneyD. Hilda, M. A. Gónzalez-Gay, P. Airo, L. Beretta, R. Scorza, T. R.D.J. Radstake, M. D. Mayes, F. C. Arnett, J. Martin

*Corresponding author for this work
78 Citations (Scopus)


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.

Original languageEnglish
JournalAnnals of the Rheumatic Diseases
Issue number4
Pages (from-to)700-705
Number of pages6
Publication statusPublished - 04.2010

Research Areas and Centers

  • Academic Focus: Center for Infection and Inflammation Research (ZIEL)


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