Miniatura

Fitxers

663669.pdf (214.62 KB)

Tipus de document

Article

Versió

Versió publicada

Data de publicació

2012-04-24

Llicència de publicació

cc-by (c) Bossini Castillo, Lara et al., 2012
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/119572

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

Títol de la revista

Autors

Director/Tutor

ISSN de la revista

Títol del volum

Recurs relacionat

https://doi.org/10.1186/ar3809

Resum

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.

Matèries

Esclerodèrmia, Malalties autoimmunitàries, Genoma humà, Fibrosi pulmonar

Matèries (anglès)

Scleroderma (Disease), Autoimmune diseases, Human genome, Pulmonary fibrosis

Citació

Col·leccions

Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Medicina)

Citació

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). A multicenter study confirms CD226gene association with systemic sclerosis-related pulmonary fibrosis. _Arthritis Research & Therapy_. 2012. Vol. 14, núm. 2, pàgs. R85. [consulta: 25 de febrer de 2026]. ISSN: 1478-6362. [Disponible a: https://hdl.handle.net/2445/119572]

Exportar metadades

JSON - METS

Compartir registre