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

Lara Bossini-Castillo, Jasper CA Broen, Carmen P Simeon, Lorenzo Beretta, Madelon C Vonk, Norberto Ortego-Centeno, Gerard Espinosa, Patricia Carreira, María Teresa Camps and Nuria Navarette, et al. (2011) 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 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.
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author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
SUSCEPTIBILITY, SCLERODERMA, CD134, GENETICS, LUPUS-ERYTHEMATOSUS, GENOME-WIDE ASSOCIATION
journal title
ANNALS OF THE RHEUMATIC DISEASES
Ann. Rheum. Dis.
volume
70
issue
4
pages
638 - 641
Web of Science type
Article
Web of Science id
000287965400014
ISSN
1468-2060
DOI
10.1136/ard.2010.141838
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1174663
handle
http://hdl.handle.net/1854/LU-1174663
date created
2011-02-28 11:10:57
date last changed
2012-01-04 10:22:15
@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, Mar{\'i}a Teresa and Navarette, Nuria and Gonz{\'a}lez-Escribano, Mar{\'i}a F and Vincente-Rabaneda, Esther and Rodr{\'i}guez, Luis and Tolosa, Carlos and Rom{\'a}n-Ivorra, Jos{\'e} A and G{\'o}mez-Gracia, Immaculada and Garc{\'i}a-Hern{\'a}ndez, Francisco J and Castellv{\'i}, Iv{\'a}n and Gallego, Mar{\'i}a and Fern{\'a}ndez-Nebro, Antonio and Garc{\'i}a-Portales, Rosa and Egurbide, Mar{\'i}a Victoria and Fonollosa, Vicente  and Garc{\'i}a de la Pe{\~n}a, Paloma and Pros, Ana and Gonz{\'a}lez-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, {\O}yvind and Lie, Benedicte A and Air{\'o}, 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 Mart{\'i}n, Javier and Rueda, Blanca},
  issn         = {1468-2060},
  journal      = {ANNALS OF THE RHEUMATIC DISEASES},
  keyword      = {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},
}

Chicago
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.
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.
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.
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.