@misc{10481/88643,
year = {2012},
url = {https://hdl.handle.net/10481/88643},
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.},
organization = {We thank Banco Nacional de ADN (University of
Salamanca, Spain) and the Norwegian Bone Marrow Donor Registry, who
supplied part of the control DNA samples. We are also thankful to EUSTAR
(the EULAR Scleroderma Trials and Research group) and the German
Network of Systemic Sclerosis for the facilitation of this project.
This work was supported by the following grants: JM was funded by GEN-
FER from the Spanish Society of Rheumatology, SAF2009-11110 from the
Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain, in part
by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/
0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain and by Fondo
Europeo de Desarrollo Regional (FEDER). TRDJR was funded by the VIDI
laureate from the Dutch Association of Research (NWO) and Dutch Arthritis
Foundation (National Reumafonds). JM and TRDJR were sponsored by the
Orphan Disease Program grant from the European League Against
Rheumatism (EULAR). BPCK is supported by the Dutch Diabetes Research Foundation (grant 2008.40.001) and the Dutch Arthritis Foundation (Reumafonds, grant NR 09-1-408). TW was granted by DFG WI 1031/6.1. This study was also funded by PI-0590-2010, Consejería de Salud, Junta de Andalucía, Spain.},
title = {A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis},
doi = {10.1186/ar3809},
author = {Bossini Castillo, Lara},
}