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

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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.
Keywords
SUSCEPTIBILITY, SCLERODERMA, CD134, GENETICS, LUPUS-ERYTHEMATOSUS, GENOME-WIDE ASSOCIATION

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MLA
Bossini-Castillo, Lara, Jasper CA Broen, Carmen P Simeon, et al. “A Replication Study Confirms the Association of TNFSF4 (OX40L) Polymorphisms with Systemic Sclerosis in a Large European Cohort.” ANNALS OF THE RHEUMATIC DISEASES 70.4 (2011): 638–641. Print.
APA
Bossini-Castillo, L., Broen, J. C., Simeon, C. P., Beretta, L., Vonk, M. C., Ortego-Centeno, N., Espinosa, G., et al. (2011). A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort. ANNALS OF THE RHEUMATIC DISEASES, 70(4), 638–641.
Chicago author-date
Bossini-Castillo, Lara, Jasper CA Broen, Carmen P Simeon, Lorenzo Beretta, Madelon C Vonk, Norberto Ortego-Centeno, Gerard Espinosa, et al. 2011. “A Replication Study Confirms the Association of TNFSF4 (OX40L) Polymorphisms with Systemic Sclerosis in a Large European Cohort.” Annals of the Rheumatic Diseases 70 (4): 638–641.
Chicago author-date (all authors)
Bossini-Castillo, Lara, Jasper CA Broen, Carmen P Simeon, Lorenzo Beretta, Madelon C Vonk, Norberto Ortego-Centeno, Gerard Espinosa, Patricia Carreira, María Teresa Camps, Nuria Navarette, María F González-Escribano, Esther Vincente-Rabaneda, Luis Rodríguez, Carlos Tolosa, José A Román-Ivorra, Immaculada Gómez-Gracia, Francisco J García-Hernández, Iván Castellví, María Gallego, Antonio Fernández-Nebro, Rosa García-Portales, María Victoria Egurbide, Vicente Fonollosa, Paloma García de la Peña, Ana Pros, Miguel A González-Gay, Roger Hesselstrand, Gabriela Riemekasten, Torsten Witte, Marieken JH Coenen, Bobby P Koeleman, Frederic Houssiau, Vanessa Smith, Filip De Keyser, Rene Westhovens, Ellen De Langhe, Alexandre E Voskuyl, Annemie J Schuerwegh, Meng May Chee, Rajan Madhok, Paul Shiels, Carmen Fonseca, Cchristopher Denton, Kathleen Claes, Leonid Padykov, Annika Nordin, Øyvind Palm, Benedicte A Lie, Paolo Airó, Raffaella Scorza, Jacob M van Laar, Nicolas Hunzelmann, Alexander Kreuter, Ariane Herrick, Jane Worthington, Timothy RDJ Radstake, Javier Martín, and Blanca Rueda. 2011. “A Replication Study Confirms the Association of TNFSF4 (OX40L) Polymorphisms with Systemic Sclerosis in a Large European Cohort.” Annals of the Rheumatic Diseases 70 (4): 638–641.
Vancouver
1.
Bossini-Castillo L, Broen JC, Simeon CP, Beretta L, Vonk MC, Ortego-Centeno N, et al. A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort. ANNALS OF THE RHEUMATIC DISEASES. 2011;70(4):638–41.
IEEE
[1]
L. Bossini-Castillo et al., “A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort,” ANNALS OF THE RHEUMATIC DISEASES, vol. 70, no. 4, pp. 638–641, 2011.
@article{1174663,
  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 CA and Simeon, Carmen P and Beretta, Lorenzo and Vonk, Madelon C and Ortego-Centeno, Norberto and Espinosa, Gerard and Carreira, Patricia and Camps, María Teresa and Navarette, Nuria and González-Escribano, María F and Vincente-Rabaneda, Esther and Rodríguez, Luis and Tolosa, Carlos and Román-Ivorra, José A and Gómez-Gracia, Immaculada and García-Hernández, Francisco J and Castellví, Iván and Gallego, María and Fernández-Nebro, Antonio and García-Portales, Rosa and Egurbide, María Victoria and Fonollosa, Vicente  and García de la Peña, Paloma and Pros, Ana and González-Gay, Miguel A and Hesselstrand, Roger and Riemekasten, Gabriela and Witte, Torsten and Coenen, Marieken JH 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, Cchristopher and Claes, Kathleen and Padykov, Leonid and Nordin, Annika and Palm, Øyvind and Lie, Benedicte A and Airó, Paolo and Scorza, Raffaella and van Laar, Jacob M and Hunzelmann, Nicolas and Kreuter, Alexander and Herrick, Ariane and Worthington, Jane and Radstake, Timothy RDJ and Martín, Javier and Rueda, Blanca},
  issn         = {1468-2060},
  journal      = {ANNALS OF THE RHEUMATIC DISEASES},
  keywords     = {SUSCEPTIBILITY,SCLERODERMA,CD134,GENETICS,LUPUS-ERYTHEMATOSUS,GENOME-WIDE ASSOCIATION},
  language     = {eng},
  number       = {4},
  pages        = {638--641},
  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},
}

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