A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

Lara Bossini-Castillo; Carmen P. Simeon; Lorenzo Beretta; Jasper C. Broen; Madelon C. Vonk; Raquel Ríos-Fernández; Gerard Espinosa; Patricia Carreira; María T. Camps; Maria J. Castillo; Miguel A. González-Gay; Emma Beltrán; María D. Carmen Freire; Javier Narváez; Carlos Tolosa; Torsten Witte; Alexander Kreuter; Annemie J. Schuerwegh; Anna Maria Hoffmann-Vold; Roger Hesselstrand; Claudio Lunardi; Jacob M. van Laar; Meng M. Chee; Ariane Herrick; Bobby P C Koeleman; Christopher P. Denton; Carmen Fonseca; Timothy R D J Radstake; Javier Martin

doi:10.1186/ar3809

A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

Lara Bossini-Castillo, Carmen P. Simeon, Lorenzo Beretta, Jasper C. Broen, Madelon C. Vonk, Raquel Ríos-Fernández, Gerard Espinosa, Patricia Carreira, María T. Camps, Maria J. Castillo, Miguel A. González-Gay, Emma Beltrán, María D. Carmen Freire, Javier Narváez, Carlos Tolosa, Torsten Witte, Alexander Kreuter, Annemie J. Schuerwegh, Anna Maria Hoffmann-Vold, Roger HesselstrandClaudio Lunardi, Jacob M. van Laar, Meng M. Chee, Ariane Herrick, Bobby P C Koeleman, Christopher P. Denton, Carmen Fonseca, Timothy R D J Radstake, Javier Martin

Research output: Contribution to journal › Article › peer-review

Abstract

Introduction: CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population.Methods: A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays.Results: Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (P Bonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).Conclusion: Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis. © 2012 Bossini-Castillo et al.; licensee BioMed Central Ltd.

Original language	English
Article number	R85
Journal	Arthritis Research and Therapy
Volume	14
Issue number	2
DOIs	https://doi.org/10.1186/ar3809
Publication status	Published - 24 Apr 2012

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http://arthritis-research.com/content/14/2/R85

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Bossini-Castillo, L., Simeon, C. P., Beretta, L., Broen, J. C., Vonk, M. C., Ríos-Fernández, R., Espinosa, G., Carreira, P., Camps, M. T., Castillo, M. J., González-Gay, M. A., Beltrán, E., Carmen Freire, M. D., Narváez, J., Tolosa, C., Witte, T., Kreuter, A., Schuerwegh, A. J., Hoffmann-Vold, A. M., ... Martin, J. (2012). A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis. Arthritis Research and Therapy, 14(2), Article R85. https://doi.org/10.1186/ar3809

@article{c9cea75a32634dad865e08a68f9d21e2,

title = "A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis",

abstract = "Introduction: CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population.Methods: A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays.Results: Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (P Bonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).Conclusion: Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis. {\textcopyright} 2012 Bossini-Castillo et al.; licensee BioMed Central Ltd.",

author = "Lara Bossini-Castillo and Simeon, {Carmen P.} and Lorenzo Beretta and Broen, {Jasper C.} and Vonk, {Madelon C.} and Raquel R{\'i}os-Fern{\'a}ndez and Gerard Espinosa and Patricia Carreira and Camps, {Mar{\'i}a T.} and Castillo, {Maria J.} and Gonz{\'a}lez-Gay, {Miguel A.} and Emma Beltr{\'a}n and {Carmen Freire}, {Mar{\'i}a D.} and Javier Narv{\'a}ez and Carlos Tolosa and Torsten Witte and Alexander Kreuter and Schuerwegh, {Annemie J.} and Hoffmann-Vold, {Anna Maria} and Roger Hesselstrand and Claudio Lunardi and {van Laar}, {Jacob M.} and Chee, {Meng M.} and Ariane Herrick and Koeleman, {Bobby P C} and Denton, {Christopher P.} and Carmen Fonseca and Radstake, {Timothy R D J} and Javier Martin",

year = "2012",

month = apr,

day = "24",

doi = "10.1186/ar3809",

language = "English",

volume = "14",

journal = "Arthritis Research and Therapy",

issn = "1478-6354",

publisher = "Springer Nature",

number = "2",

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Bossini-Castillo, L, Simeon, CP, Beretta, L, Broen, JC, Vonk, MC, Ríos-Fernández, R, Espinosa, G, Carreira, P, Camps, MT, Castillo, MJ, González-Gay, MA, Beltrán, E, Carmen Freire, MD, Narváez, J, Tolosa, C, Witte, T, Kreuter, A, Schuerwegh, AJ, Hoffmann-Vold, AM, Hesselstrand, R, Lunardi, C, van Laar, JM, Chee, MM, Herrick, A, Koeleman, BPC, Denton, CP, Fonseca, C, Radstake, TRDJ & Martin, J 2012, 'A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis', Arthritis Research and Therapy, vol. 14, no. 2, R85. https://doi.org/10.1186/ar3809

TY - JOUR

T1 - A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

AU - Bossini-Castillo, Lara

AU - Simeon, Carmen P.

AU - Beretta, Lorenzo

AU - Broen, Jasper C.

AU - Vonk, Madelon C.

AU - Ríos-Fernández, Raquel

AU - Espinosa, Gerard

AU - Carreira, Patricia

AU - Camps, María T.

AU - Castillo, Maria J.

AU - González-Gay, Miguel A.

AU - Beltrán, Emma

AU - Carmen Freire, María D.

AU - Narváez, Javier

AU - Tolosa, Carlos

AU - Witte, Torsten

AU - Kreuter, Alexander

AU - Schuerwegh, Annemie J.

AU - Hoffmann-Vold, Anna Maria

AU - Hesselstrand, Roger

AU - Lunardi, Claudio

AU - van Laar, Jacob M.

AU - Chee, Meng M.

AU - Herrick, Ariane

AU - Koeleman, Bobby P C

AU - Denton, Christopher P.

AU - Fonseca, Carmen

AU - Radstake, Timothy R D J

AU - Martin, Javier

PY - 2012/4/24

Y1 - 2012/4/24

N2 - Introduction: CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population.Methods: A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays.Results: Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (P Bonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).Conclusion: Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis. © 2012 Bossini-Castillo et al.; licensee BioMed Central Ltd.

AB - Introduction: CD226 genetic variants have been associated with a number of autoimmune diseases and recently with systemic sclerosis (SSc). The aim of this study was to test the influence of CD226 loci in SSc susceptibility, clinical phenotypes and autoantibody status in a large multicenter European population.Methods: A total of seven European populations of Caucasian ancestry were included, comprising 2,131 patients with SSc and 3,966 healthy controls. Three CD226 single nucleotide polymorphisms (SNPs), rs763361, rs3479968 and rs727088, were genotyped using Taqman 5'allelic discrimination assays.Results: Pooled analyses showed no evidence of association of the three SNPs, neither with the global disease nor with the analyzed subphenotypes. However, haplotype block analysis revealed a significant association for the TCG haplotype (SNP order: rs763361, rs34794968, rs727088) with lung fibrosis positive patients (P Bonf = 3.18E-02 OR 1.27 (1.05 to 1.54)).Conclusion: Our data suggest that the tested genetic variants do not individually influence SSc susceptibility but a CD226 three-variant haplotype is related with genetic predisposition to SSc-related pulmonary fibrosis. © 2012 Bossini-Castillo et al.; licensee BioMed Central Ltd.

U2 - 10.1186/ar3809

DO - 10.1186/ar3809

M3 - Article

C2 - 22531499

SN - 1478-6354

VL - 14

JO - Arthritis Research and Therapy

JF - Arthritis Research and Therapy

IS - 2

M1 - R85

ER -

A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

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