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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 (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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 Fuente: Arthritis Research & Therapy, 2012, 14(2), R85

Editorial: BioMed Central

 Año de publicación: 2012

Nº de páginas: 7

Tipo de publicación: Artículo de Revista

 DOI: 10.1186/ar3809

ISSN: 1478-6354,1478-6362

 Proyecto español: SAF2009-11110

Url de la publicación: https://doi.org/10.1186/ar3809

Autoría

BOSSINI-CASTILLO, LARA

SIMEÓN, CARMEN P.

BERETTA, LORENZO

BROEN, JASTER C.

VONK, MADELON C.

RÍOS-FERNÁNDEZ, RAQUEL

ESPINOSA, GERARD

CARREIRA, PATRICIA

CAMPS, MARÍA T.

CASTILLO, MARÍA J.

FREIRE, MARÍA DEL CARMEN

NARVÁEZ, JAVIER

TOLOSA, CARLOS

WITTE, TORSTEN

KREUTER, ALEXANDER

SCHUERWEGH, ANNEMIE, J.

HOFFMAN-VOLD, ANNA-MARIA

HESSELSTRAND, ROGER