2024-03-28T18:01:15Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/542262023-01-16T07:42:08Zcom_10261_64com_10261_1col_10261_317
00925njm 22002777a 4500
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Bossini-Castillo, L.
author
Broen, Jasper C.
author
Simeón, Carmen P.
author
Beretta, L.
author
Vonk, Madelon C.
author
Ortego-Centeno, N.
author
Espinosa, Gerard
author
Carreira, P.
author
Camps, M. T.
author
Navarrete, N.
author
González-Escribano, María Francisca
author
Vicente, Esther
author
Rodríguez-Rodríguez, Luis
author
Tolosa, Carlos
author
Román-Ivorra, J. A.
author
Gómez-Gracía, I.
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García-Hernández, Francisco José
author
Castellví, I.
author
Gallego, María
author
Fernández-Nebro, Antonio
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García-Portales, Rosa
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Egurbide, M. V.
author
Fonollosa, V.
author
García de la Peña, P.
author
Pros, A.
author
González-Gay, M. A.
author
Hesselstrand, R.
author
Riemekasten, G.
author
Witte, Torsten
author
Coenen, M. J.
author
Koeleman, B. P.
author
Houssiau, F.
author
Smith, V.
author
Keyser, F. de
author
Westhovens, R.
author
Langhe, E. de
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Voskuyl, Alexandre E.
author
Schuerwegh, A. J.
author
Chee, M. M.
author
Madhok, R.
author
Shiels, Paul G.
author
Fonseca, C.
author
Denton, C.
author
Claes, K.
author
Padyukov, Leonid
author
Nordin, A.
author
Palm, Øyvind
author
Lie, B. A.
author
Airó, Paolo
author
Scorza, R.
author
Laar, Jacob M. van
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Hunzelmann, Nicolas
author
Kreuter, A.
author
Herrick, A.
author
Worthington, J.
author
Radstake, T. R.
author
Martín, J.
author
Rueda, B.
author
2011
Objectives: The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. Methods: A total of 8 European populations of Caucasian ancestry were included, comprising 3014 patients with SSc and 3125 healthy controls. Four genetic variants of TNFSF4 gene promoter (rs1234314, rs844644, rs844648 and rs12039904) were selected as genetic markers. Results: A pooled analysis revealed the association of rs1234314 and rs12039904 polymorphisms with SSc (OR 1.15, 95% CI 1.02 to 1.31; OR 1.18, 95% CI 1.08 to 1.29, respectively). Significant association of the four tested variants with patients with limited cutaneous SSc (lcSSc) was revealed (rs1234314 OR 1.22, 95% CI 1.07 to 1.38; rs844644 OR 0.91, 95% CI 0.83 to 0.99; rs844648 OR 1.10, 95% CI 1.01 to 1.20 and rs12039904 OR 1.20, 95% CI 1.09 to 1.33). Association of rs1234314, rs844648 and rs12039904 minor alleles with patients positive for anti-centromere antibodies (ACA) remained significant (OR 1.23, 95% CI 1.10 to 1.37; OR 1.12, 95% CI 1.01 to 1.25; OR 1.22, 95% CI 1.07 to 1.38, respectively). Haplotype analysis confirmed a protective haplotype associated with SSc, lcSSc and ACA positive subgroups (OR 0.88, 95% CI 0.82 to 0.96; OR 0.88, 95% CI 0.80 to 0.96; OR 0.86, 95% CI 0.77 to 0.97, respectively) and revealed a new risk haplotype associated with the same groups of patients (OR 1.14, 95% CI 1.03 to 1.26; OR 1.20, 95% CI 1.08 to 1.35; OR 1.23, 95% CI 1.07 to 1.42, respectively). Conclusions: The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.
Annals of the Rheumatic Diseases 70: 638-641 (2011)
http://hdl.handle.net/10261/54226
10.1136/ard.2010.141838.
A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort.