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A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

Bossini-Castillo, Lara; Broen, Jasper C. A.; Simeon, Carmen P.; Beretta, Lorenzo; Vonk, Madelon C.; Ortego-Centeno, Norberto; Espinosa, Gerard; Carreira, Patricia; Teresa Camps, Maria and Navarrete, Nuria, et al. (2011) In Annals of the Rheumatic Diseases 70(4). p.638-641
Abstract
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... (More)
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. (Less)
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Annals of the Rheumatic Diseases
volume
70
issue
4
pages
638 - 641
publisher
British Medical Association
external identifiers
  • wos:000287965400014
  • scopus:79952359835
ISSN
1468-2060
DOI
10.1136/ard.2010.141838
language
English
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yes
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68e5ee38-bc36-4f42-a894-94ffc11e8174 (old id 1868682)
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2011-04-04 07:22:44
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2017-10-01 04:07:47
@article{68e5ee38-bc36-4f42-a894-94ffc11e8174,
  abstract     = {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.},
  author       = {Bossini-Castillo, Lara and Broen, Jasper C. A. and Simeon, Carmen P. and Beretta, Lorenzo and Vonk, Madelon C. and Ortego-Centeno, Norberto and Espinosa, Gerard and Carreira, Patricia and Teresa Camps, Maria and Navarrete, Nuria and Gonzalez-Escribano, Maria F. and Vicente-Rabaneda, Esther and Rodriguez, Luis and Tolosa, Carlos and Roman-Ivorra, Jose A. and Gomez-Gracia, Inmaculada and Garcia-Hernandez, Francisco J. and Castellvi, Ivan and Gallego, Maria and Fernandez-Nebro, Antonio and Garcia-Portales, Rosa and Victoria Egurbide, Maria and Fonollosa, Vicente and Garcia de la Pena, Paloma and Pros, Ana and Gonzalez-Gay, Miguel A. and Hesselstrand, Roger and Riemekasten, Gabriela and Witte, Torsten and Coenen, Marieke J. H. and Koeleman, Bobby P. and Houssiau, Frederic and Smith, Vanessa and de Keyser, Filip and Westhovens, Rene and De Langhe, Ellen and Voskuyl, Alexandre E. and Schuerwegh, Annemie J. and Chee, Meng May and Madhok, Rajan and Shiels, Paul and Fonseca, Carmen and Denton, Christopher and Claes, Kathleen and Padykov, Leonid and Nordin, Annika and Palm, Oyvind and Lie, Benedicte A. and Airo, Paolo and Scorza, Raffaella and van Laar, Jacob M. and Hunzelmann, Nicolas and Kreuter, Alexander and Herrick, Ariane and Worthington, Jane and Radstake, Timothy R. D. J. and Martin, Javier and Rueda, Blanca},
  issn         = {1468-2060},
  language     = {eng},
  number       = {4},
  pages        = {638--641},
  publisher    = {British Medical Association},
  series       = {Annals of the Rheumatic Diseases},
  title        = {A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort},
  url          = {http://dx.doi.org/10.1136/ard.2010.141838},
  volume       = {70},
  year         = {2011},
}