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.
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.
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U2 - 10.1186/ar3809
DO - 10.1186/ar3809
M3 - Article
C2 - 22531499
AN - SCOPUS:84859935899
SN - 1478-6354
VL - 14
JO - Arthritis Research and Therapy
JF - Arthritis Research and Therapy
IS - 2
M1 - R85
ER -