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

Lara Bossini-Castillo; Jasper C.A. Broen; Carmen P. Simeon; Lorenzo Beretta; Madelon C. Vonk; Norberto Ortego-Centeno; Gerard Espinosa; Patricia Carreira; María Teresa Camps; Nuria Navarrete; María F. González-Escribano; Esther Vicente-Rabaneda; Luis Rodríguez; Carlos Tolosa; José A. Román-Ivorra; Inmaculada 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; Marieke J.H. 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; Christopher 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 R.D.J. Radstake; Javier Martín; Blanca Rueda

doi:10.1136/ard.2010.141838

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

Lara Bossini-Castillo
, Jasper C.A. Broen
, Carmen P. Simeon
, Lorenzo Beretta
, Madelon C. Vonk
, Norberto Ortego-Centeno
, Gerard Espinosa
, Patricia Carreira
, María Teresa Camps
, Nuria Navarrete
, María F. González-Escribano
, Esther Vicente-Rabaneda
, Luis Rodríguez
, Carlos Tolosa
, José A. Román-Ivorra
, Inmaculada 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, Marieke J.H. 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, Christopher 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 R.D.J. Radstake, Javier Martín, Blanca Rueda^*

^*Corresponding author for this work

Department of Rheumatology and Clinical Immunology

Institute of Parasitology and Biomedicine López-Neyra
Radboud University Nijmegen
Universitari Vall d'Hebrón
University of Milan
Hospital Universitario San Cecilio
Hospital Clinic
Hospital 12 de Octubre
Hospital Regional Universitario Carlos Haya
Hospital Universitario Virgen de las Nieves
Hospital Universitario Virgen del Rocio
Hospital Universitario de la Princesa
Biomedica Hospital Clinico San Carlos
Hospital del Doctor Peset Aleixandre
Hospital Universitario Reina Sofia
Hospital de la Santa Creu i Sant Pau
Hospital Universitario Central de Asturias
Hospital Universitari Virgen de la Victoria
Hospital de Cruces
Hospital Ramon y Cajal
Hospital del Mar
Hospital Universitario Marques de Valdecilla
Lund University
Hannover Medical School
Utrecht University
Université Catholique de Louvain
Ghent University
KU Leuven
University of Amsterdam
Leiden University
University of Glasgow
University of London
Karolinska Institutet
Rikshospitalet-Radiumhospitalet HF
Spedali Civili of Brescia
Newcastle University
University of Cologne
Ruhr-University Bochum
University of Manchester

72 Citations (Scopus)

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 anticentromere 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.

Original language	English
Journal	Annals of the Rheumatic Diseases
Volume	70
Issue number	4
Pages (from-to)	638-641
Number of pages	4
ISSN	0003-4967
DOIs	https://doi.org/10.1136/ard.2010.141838
Publication status	Published - 04.2011

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Research Areas and Centers

Academic Focus: Center for Infection and Inflammation Research (ZIEL)

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10.1136/ard.2010.141838

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Bossini-Castillo, L., Broen, J. C. A., Simeon, C. P., Beretta, L., Vonk, M. C., Ortego-Centeno, N., Espinosa, G., Carreira, P., Camps, M. T., Navarrete, N., González-Escribano, M. F., Vicente-Rabaneda, E., Rodríguez, L., Tolosa, C., Román-Ivorra, J. A., Gómez-Gracia, I., García-Hernández, F. J., Castellví, I., Gallego, M., ... Rueda, B. (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. https://doi.org/10.1136/ard.2010.141838

@article{9d5ffa41275d4ab6804a03c05e153c81,

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

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 anticentromere 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 = "Lara Bossini-Castillo and Broen, \{Jasper C.A.\} and Simeon, \{Carmen P.\} and Lorenzo Beretta and Vonk, \{Madelon C.\} and Norberto Ortego-Centeno and Gerard Espinosa and Patricia Carreira and Camps, \{Mar{\'i}a Teresa\} and Nuria Navarrete and Gonz{\'a}lez-Escribano, \{Mar{\'i}a F.\} and Esther Vicente-Rabaneda and Luis Rodr{\'i}guez and Carlos Tolosa and Rom{\'a}n-Ivorra, \{Jos{\'e} A.\} and Inmaculada G{\'o}mez-Gracia and Garc{\'i}a-Hern{\'a}ndez, \{Francisco J.\} and Iv{\'a}n Castellv{\'i} and Mar{\'i}a Gallego and Antonio Fern{\'a}ndez-Nebro and Rosa Garc{\'i}a-Portales and Egurbide, \{Mar{\'i}a Victoria\} and Vicente Fonollosa and \{De La Pe{\~n}a\}, \{Paloma Garc{\'i}a\} and Ana Pros and Gonz{\'a}lez-Gay, \{Miguel A.\} and Roger Hesselstrand and Gabriela Riemekasten and Torsten Witte and Coenen, \{Marieke J.H.\} and Koeleman, \{Bobby P.\} and Frederic Houssiau and Vanessa Smith and \{De Keyser\}, Filip and Rene Westhovens and \{De Langhe\}, Ellen and Voskuyl, \{Alexandre E.\} and Schuerwegh, \{Annemie J.\} and Chee, \{Meng May\} and Rajan Madhok and Paul Shiels and Carmen Fonseca and Christopher Denton and Kathleen Claes and Leonid Padykov and Annika Nordin and {\O}yvind Palm and Lie, \{Benedicte A.\} and Paolo Air{\'o} and Raffaella Scorza and \{Van Laar\}, \{Jacob M.\} and Nicolas Hunzelmann and Alexander Kreuter and Ariane Herrick and Jane Worthington and Radstake, \{Timothy R.D.J.\} and Javier Mart{\'i}n and Blanca Rueda",

year = "2011",

month = apr,

doi = "10.1136/ard.2010.141838",

language = "English",

volume = "70",

pages = "638--641",

journal = "Annals of the Rheumatic Diseases",

issn = "0003-4967",

publisher = "Elsevier B.V.",

number = "4",

}

Bossini-Castillo, L, Broen, JCA, Simeon, CP, Beretta, L, Vonk, MC, Ortego-Centeno, N, Espinosa, G, Carreira, P, Camps, MT, Navarrete, N, González-Escribano, MF, Vicente-Rabaneda, E, Rodríguez, L, Tolosa, C, Román-Ivorra, JA, Gómez-Gracia, I, García-Hernández, FJ, Castellví, I, Gallego, M, Fernández-Nebro, A, García-Portales, R, Egurbide, MV, Fonollosa, V, De La Peña, PG, Pros, A, González-Gay, MA, Hesselstrand, R, Riemekasten, G, Witte, T, Coenen, MJH, Koeleman, BP, Houssiau, F, Smith, V, De Keyser, F, Westhovens, R, De Langhe, E, Voskuyl, AE, Schuerwegh, AJ, Chee, MM, Madhok, R, Shiels, P, Fonseca, C, Denton, C, Claes, K, Padykov, L, Nordin, A, Palm, Ø, Lie, BA, Airó, P, Scorza, R, Van Laar, JM, Hunzelmann, N, Kreuter, A, Herrick, A, Worthington, J, Radstake, TRDJ, Martín, J & Rueda, B 2011, '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. https://doi.org/10.1136/ard.2010.141838

TY - JOUR

T1 - A replication study confirms the association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis in a large European cohort

AU - Bossini-Castillo, Lara

AU - Broen, Jasper C.A.

AU - Simeon, Carmen P.

AU - Beretta, Lorenzo

AU - Vonk, Madelon C.

AU - Ortego-Centeno, Norberto

AU - Espinosa, Gerard

AU - Carreira, Patricia

AU - Camps, María Teresa

AU - Navarrete, Nuria

AU - González-Escribano, María F.

AU - Vicente-Rabaneda, Esther

AU - Rodríguez, Luis

AU - Tolosa, Carlos

AU - Román-Ivorra, José A.

AU - Gómez-Gracia, Inmaculada

AU - García-Hernández, Francisco J.

AU - Castellví, Iván

AU - Gallego, María

AU - Fernández-Nebro, Antonio

AU - García-Portales, Rosa

AU - Egurbide, María Victoria

AU - Fonollosa, Vicente

AU - De La Peña, Paloma García

AU - Pros, Ana

AU - González-Gay, Miguel A.

AU - Hesselstrand, Roger

AU - Riemekasten, Gabriela

AU - Witte, Torsten

AU - Coenen, Marieke J.H.

AU - Koeleman, Bobby P.

AU - Houssiau, Frederic

AU - Smith, Vanessa

AU - De Keyser, Filip

AU - Westhovens, Rene

AU - De Langhe, Ellen

AU - Voskuyl, Alexandre E.

AU - Schuerwegh, Annemie J.

AU - Chee, Meng May

AU - Madhok, Rajan

AU - Shiels, Paul

AU - Fonseca, Carmen

AU - Denton, Christopher

AU - Claes, Kathleen

AU - Padykov, Leonid

AU - Nordin, Annika

AU - Palm, Øyvind

AU - Lie, Benedicte A.

AU - Airó, Paolo

AU - Scorza, Raffaella

AU - Van Laar, Jacob M.

AU - Hunzelmann, Nicolas

AU - Kreuter, Alexander

AU - Herrick, Ariane

AU - Worthington, Jane

AU - Radstake, Timothy R.D.J.

AU - Martín, Javier

AU - Rueda, Blanca

PY - 2011/4

Y1 - 2011/4

N2 - 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 anticentromere 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.

AB - 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 anticentromere 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.

UR - https://www.scopus.com/pages/publications/79952359835

U2 - 10.1136/ard.2010.141838

DO - 10.1136/ard.2010.141838

M3 - Journal articles

C2 - 21187296

AN - SCOPUS:79952359835

SN - 0003-4967

VL - 70

SP - 638

EP - 641

JO - Annals of the Rheumatic Diseases

JF - Annals of the Rheumatic Diseases

IS - 4

ER -

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

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