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Multicenter Study
. 2012 Apr 24;14(2):R85.
doi: 10.1186/ar3809.

A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

Lara Bossini-Castillo  1 , Carmen P Simeon, Lorenzo Beretta, Jasper C Broen, Madelon C Vonk, Raquel Ríos-Fernández, Gerard Espinosa, Patricia Carreira, María T Camps, Maria J Castillo, Miguel A González-Gay, Emma Beltrán, María del Carmen Freire, Javier Narváez, Carlos Tolosa, Torsten Witte, Alexander Kreuter, Annemie J Schuerwegh, Anna-Maria Hoffmann-Vold, Roger Hesselstrand, Claudio Lunardi, Jacob M van Laar, Meng May Chee, Ariane Herrick, Bobby Pc Koeleman, Christopher P Denton, Carmen Fonseca, Timothy Rdj Radstake, Javier Martin; Spanish Scleroderma Group
Collaborators, Affiliations
Multicenter Study

A multicenter study confirms CD226 gene association with systemic sclerosis-related pulmonary fibrosis

Lara Bossini-Castillo et al. Arthritis Res Ther. .

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.

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