A multicenter study confirms CD226gene association with systemic sclerosis-related pulmonary fibrosis

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...

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Detalles Bibliográficos
Autores: Bossini Castillo, Lara, Simeón Aznar, Carmen Pilar, Beretta, Lorenzo, Broen, Jasper C., Vonk, Madelon C., Ríos-Fernández, Raquel, Espinosa Garriga, Gerard, Carreira, Patricia, Camps García, María Teresa, Castillo Palma, María Jesús, González-Gay, Miguel A., Beltrán, Emma, Freire, Mayka, Narváez García, Francisco Javier, Tolosa Vilella, Carles, Witte, Torsten, Kreuter, Alexander, Schuerwegh, Annemie J., Hoffmann-Vold, Anna-Maria, Hesselstrand, Roger, Lunardi, Claudio, van Laar, Jacob M., Chee, Meng May, Herrick, Ariane L., Koeleman, Bobby P. C., Denton, Christopher P., Fonseca, Carmen, Radstake, Timothy R.D.J., Martín, Javier, Spanish Scleroderma Study Group (SSSG)
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2012
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/119572
Acceso en línea:https://hdl.handle.net/2445/119572
Access Level:acceso abierto
Palabra clave:Esclerodèrmia
Malalties autoimmunitàries
Genoma humà
Fibrosi pulmonar
Scleroderma (Disease)
Autoimmune diseases
Human genome
Pulmonary fibrosis
Descripción
Sumario: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 (PBonf = 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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