Title: A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort
Authors: Bossini-Castillo, Lara ×
Broen, Jasper C A
Simeon, Carmen P
Beretta, Lorenzo
Vonk, Madelon C
Ortego-Centeno, Norberto
Espinosa, Gerard
Carreira, Patricia
Camps, María Teresa
Navarrete, Nuria
González-Escribano, María F
Vicente-Rabaneda, Esther
Rodríguez, Luis
Tolosa, Carlos
Román-Ivorra, José A
Gómez-Gracia, Inmaculada
García-Hernández, Francisco J
Castellví, Iván
Gallego, María
Fernández-Nebro, Antonio
García-Portales, Rosa
Egurbide, María Victoria
Fonollosa, Vicente
de la Peña, Paloma García
Pros, Ana
González-Gay, Miguel A
Hesselstrand, Roger
Riemekasten, Gabriela
Witte, Torsten
Coenen, Marieke J H
Koeleman, Bobby P
Houssiau, Frederic
Smith, Vanessa
de Keyser, Filip
Westhovens, Rene
De Langhe, Ellen
Voskuyl, Alexandre E
Schuerwegh, Annemie J
Chee, Meng May
Madhok, Rajan
Shiels, Paul
Fonseca, Carmen
Denton, Christopher
Claes, Kathleen
Padykov, Leonid
Nordin, Annika
Palm, Oyvind
Airó, Paolo
Scorza, Raffaella
van Laar, Jacob M
Hunzelmann, Nicolas
Kreuter, Alexander
Herrick, Ariane
Worthington, Jane
Radstake, Timothy R D J
Martín, Javier
Rueda, Blanca #
Issue Date: Dec-2010
Publisher: H.K. Lewis
Series Title: Annals of the Rheumatic Diseases vol:70 issue:4 pages:638-641
Abstract: OBJECTIVES: /st> The aim of this study was to confirm the influence of TNFSF4 polymorphisms on systemic sclerosis (SSc) susceptibility and phenotypic features. METHODS: /st> 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: /st> 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: /st> The data confirm the influence of TNFSF4 polymorphisms in SSc genetic susceptibility, especially in subsets of patients positive for lcSSc and ACA.
ISSN: 0003-4967
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Rheumatology Section (-)
Neuro-musculo-skeletal Research (-)
× corresponding author
# (joint) last author

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