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Arthritis Res Ther ; 14(2): R85, 2012 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-22531499


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.

Antígenos de Diferenciação de Linfócitos T/genética , Estudos de Associação Genética , Polimorfismo de Nucleotídeo Único/genética , Fibrose Pulmonar/genética , Escleroderma Sistêmico/genética , Estudos de Coortes , Feminino , Estudos de Associação Genética/métodos , Variação Genética/genética , Genótipo , Humanos , Masculino , Fibrose Pulmonar/epidemiologia , Escleroderma Sistêmico/epidemiologia