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Lookup NU author(s): Professor Jaap Van Laar
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 (P-Bonf = 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.
Author(s): Bossini-Castillo L, Simeon CP, Beretta L, Broen JC, Vonk MC, Rios-Fernandez R, Espinosa G, Carreira P, Camps MT, Castillo MJ, Gonzalez-Gay MA, Beltran E, Freire MD, Narvaez J, Tolosa C, Witte T, Kreuter A, Schuerwegh AJ, Hoffmann-Vold AM, Hesselstrand R, Lunardi C, van Laar JM, Chee MM, Herrick A, Koeleman BPC, Denton CP, Fonseca C, Radstake TRDJ, Martin J, Spanish Scleroderma Grp
Publication type: Article
Publication status: Published
Journal: Arthritis Research & Therapy
Year: 2012
Volume: 14
Issue: 2
Print publication date: 24/04/2012
Date deposited: 04/01/2013
ISSN (electronic): 1478-6354
Publisher: BioMed Central Ltd.
URL: http://dx.doi.org/10.1186/ar3809
DOI: 10.1186/ar3809
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