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BANK1 functional va...
BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
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Rueda, B. (author)
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Gourh, P. (author)
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Broen, J. (author)
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Agarwal, S. K. (author)
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Simeon, C. (author)
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Ortego-Centeno, N. (author)
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Vonk, M. C. (author)
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Coenen, M. (author)
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Riemekasten, G. (author)
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Hunzelmann, N. (author)
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- Hesselstrand, Roger (author)
- Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
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Tan, F. K. (author)
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Reveille, J. D. (author)
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Assassi, S. (author)
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Garcia-Hernandez, F. J. (author)
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Carreira, P. (author)
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Camps, M. (author)
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Fernandez-Nebro, A. (author)
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Garcia de la Pena, P. (author)
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Nearney, T. (author)
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Hilda, D. (author)
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Gonzalez-Gay, M. A. (author)
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Airo, P. (author)
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Beretta, L. (author)
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Scorza, R. (author)
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Radstake, T. R. D. J. (author)
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Mayes, M. D. (author)
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Arnett, F. C. (author)
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Martin, J. (author)
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(creator_code:org_t)
- 2009-10-08
- 2010
- English.
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In: Annals of the Rheumatic Diseases. - : BMJ. - 1468-2060 .- 0003-4967. ; 69:4, s. 700-705
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Abstract
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
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- By the author/editor
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Rueda, B.
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Gourh, P.
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Broen, J.
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Agarwal, S. K.
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Simeon, C.
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Ortego-Centeno, ...
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show more...
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Vonk, M. C.
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Coenen, M.
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Riemekasten, G.
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Hunzelmann, N.
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Hesselstrand, Ro ...
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Tan, F. K.
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Reveille, J. D.
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Assassi, S.
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Garcia-Hernandez ...
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Carreira, P.
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Camps, M.
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Fernandez-Nebro, ...
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Garcia de la Pen ...
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Nearney, T.
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Hilda, D.
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Gonzalez-Gay, M. ...
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Airo, P.
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Beretta, L.
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Scorza, R.
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Radstake, T. R. ...
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Mayes, M. D.
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Arnett, F. C.
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Martin, J.
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show less...
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- MEDICAL AND HEALTH SCIENCES
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Lund University