原创力文档a multicenter study confirms cd226 gene association with systemic sclerosis-related pulmonary fibrosis一项多中心研究证实cd226基因与系统性sclerosis-related肺纤维化.pdfVIP
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a multicenter study confirms cd226 gene association with systemic sclerosis-related pulmonary fibrosis一项多中心研究证实cd226基因与系统性sclerosis-related肺纤维化
Bossini-Castillo et al. Arthritis Research Therapy 2012, 14:R85
/content/14/2/R85
RESEARCH ARTICLE Open Access
A multicenter study confirms CD226 gene
association with systemic sclerosis-related
pulmonary fibrosis
1* 2 3 4 4
Lara Bossini-Castillo , Carmen P Simeon , Lorenzo Beretta , Jasper C Broen , Madelon C Vonk ,
5 6 7 8 9
Raquel Ríos-Fernández , Gerard Espinosa , Patricia Carreira , María T Camps , Maria J Castillo ,
Miguel A González-Gay10, Emma Beltrán11, María del Carmen Freire12, Javier Narváez13, Carlos Tolosa14,
Torsten Witte 15, Alexander Kreuter16, Annemie J Schuerwegh17, Anna-Maria Hoffmann-Vold18,
Roger Hesselstrand19, Claudio Lunardi20, Jacob M van Laar21, Meng May Chee22, Ariane Herrick23,
Bobby PC Koeleman24, Christopher P Denton25, Carmen Fonseca25, Timothy RDJ Radstake26† and Javier Martin1†,
for the Spanish Scleroderma Group
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
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