RT Journal Article
T1 A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis.
A1 Bossini-Castillo, Lara
A1 Simeon, Carmen P
A1 Beretta, Lorenzo
A1 Broen, Jasper C
A1 Vonk, Madelon C
A1 Ríos-Fernández, Raquel
A1 Espinosa, Gerard
A1 Carreira, Patricia
A1 Camps, María T
A1 Castillo, Maria J
A1 González-Gay, Miguel A
A1 Beltrán, Emma
A1 Carmen Freire, María del
A1 Narváez, Javier
A1 Tolosa, Carlos
A1 Witte, Torsten
A1 Kreuter, Alexander
A1 Schuerwegh, Annemie J
A1 Hoffmann-Vold, Anna-Maria
A1 Hesselstrand, Roger
A1 Lunardi, Claudio
A1 van Laar, Jacob M
A1 Chee, Meng May
A1 Herrick, Ariane
A1 Koeleman, Bobby Pc
A1 Denton, Christopher P
A1 Fonseca, Carmen
A1 Radstake, Timothy Rdj
A1 Martin, Javier
K1 Antígenos de diferenciación de linfocitos T
K1 Estudios de cohortes
K1 Estudios de asociación genética
K1 Genotipo
K1 Fibrosis pulmonar
K1 Esclerodermia sistémica
AB INTRODUCTIONCD226 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.METHODSA 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.RESULTSPooled 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)).CONCLUSIONOur 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.
PB BioMed Central
SN 1478-6354
YR 2012
FD 2012-04-24
LK http://hdl.handle.net/10668/1308
UL http://hdl.handle.net/10668/1308
LA en
NO Bossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Ríos-Fernández R, et al. A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis. Arthritis Res. Ther.2012; 14(2):R85
NO Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't;
DS RISalud
RD Apr 6, 2025