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Cited by 108Systemic Sclerosis and Related DiseasesConnective tissue disorders researchGenetic Associations and Epidemiology

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

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Rueda, B, Gourh, P, Broen, J, Agarwal, S K, Simeon, C, Ortego-Centeno, N, Vonk, M C, Coenen, M +21 more·2010·Annals of the Rheumatic Diseases
DOI 10.1136/ard.2009.118174PMC PMC2975737
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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.

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  • B cell adaptor protein with ankyrin repeats is a known risk factor in autoimmunity including SLE and systemic sclerosis.

    “B cell adaptor protein with ankyrin repeats is a known risk factor in autoimmunity including SLE and systemic sclerosis (113, 114).”

    From The role of PLCγ2 in immunological disorders, cancer, and neurodegeneration (2021) · cites this paper as [114]

    The Introduction reports that BANK1 variants are associated with susceptibility to SLE, and the Discussion reports an association with diffuse systemic sclerosis in the studied Caucasian cohorts. The claim does not preserve the paper’s limitation to the diffuse form; the Discussion says the results suggest susceptibility to diffuse, but not limited, systemic sclerosis and calls for further replication. (LLM, conf=0.86)

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Authors
Rueda, B., Gourh, P., Broen, J., Agarwal, S. K., Simeon, C., Ortego-Centeno, N., Vonk, M. C., Coenen, M., Riemekasten, G., Hunzelmann, N., Hesselstrand, R., Tan, F. K., Reveille, J. D., Assassi, S., Garcia-Hernandez, F. J., Carreira, P., Camps, M., Fernandez-Nebro, A., de la Peña, P. G., Nearney, T., Hilda, D., Gónzalez-Gay, M. A., Airo, P., Beretta, L., Scorza, R., Radstake, T. R. D. J., Mayes, M. D., Arnett, F. C., & Martin, J.
Affiliations
  • The University of Texas Health Science Center at Houston (US)
  • Radboud University Medical Center (NL)
  • Charité – Universitätsmedizin Berlin (DE)
  • University of Cologne (DE)
  • Lund University (SE)
  • Hospital Universitario 12 De Octubre (ES)
  • The University of Texas Medical Branch at Galveston (US)
  • The University of Texas at San Antonio Health Science Center (US)
  • University of Milan (IT)
  • Instituto de Parasitología y Biomedicina "López - Neyra" (ES)
ORCID
Venue
Annals of the Rheumatic Diseases
Publisher
Elsevier BV
Published
2010-05
Volume
69
Issue
4
Pages
700-705
ISSN
0003-4967 (ISSN-L)
DOI
10.1136/ard.2009.118174
PMC
PMC2975737
OpenAlex
W2124910352
Cited by
108
References
0
Citations by year
2025: 1 · 2024: 6 · 2023: 1 · 2022: 3 · 2021: 8 · 2020: 5 · 2019: 4 · 2018: 4 · 2017: 4 · 2016: 12 · 2015: 13 · 2014: 5 · 2013: 10 · 2012: 7
FWCI
7.54
Type
journal article
Language
en
Update notices
erratum (2011-05-01)
Open access
Licence
Locations
  • Annals of the Rheumatic Diseases (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • Lund University Publications (Lund University) (submittedVersion)
  • HighWire Press Open Archive (submittedVersion)
  • Radboud Repository (Radboud University) (submittedVersion)
Funders
  • Arthritis Foundation
  • Dutch Arthritis Association
  • National Institutes of Health (5p50ar054144-05, n01ar002251-000)
  • Instituto de Salud Carlos III
  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (P50-AR-054144, R01AR055258, N01 AR 02251, K08AR054404)
  • National Center for Research Resources (UL1RR024148)
Topics
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Systemic Sclerosis and Related Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
systemic sclerosis, diffuse cutaneous systemic sclerosis, genetic susceptibility, single nucleotide polymorphisms, anti-Scl-70 antibodies, anti-RNA polymerase III antibodies, autoantibodies, genetic association
MeSH terms
Autoantibodies, Gene Frequency, Genotype, Humans, Membrane Proteins, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Scleroderma, Diffuse, Adaptor Proteins, Signal Transducing

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