Downloads provided by UsageCountsA multicenter study confirms CD226gene association with systemic sclerosis-related pulmonary fibrosis
Copyright policy ) Bossini Castillo L; Simeon CP; Beretta L; Broen JC; Vonk MC; Ríos Fernández R; Espinosa G; +23 Authors
Bossini Castillo L; Simeon CP; Beretta L; Broen JC; Vonk MC; Ríos Fernández R; Espinosa G; Carreira P; Camps MT; Castillo MJ; González Gay MA; Beltrán E; Carmen Freire MD; Narváez J; Tolosa C; Witte T; Kreuter A; Schuerwegh AJ; Hoffmann Vold AM; Hesselstrand R; LUNARDI, Claudio; van Laar JM; Chee MM; Herrick A; Koeleman BP; Denton CP; Fonseca C; Radstake TR; Martin J; the Spanish Scleroderma Group;
A multicenter study confirms CD226gene association with systemic sclerosis-related pulmonary fibrosis
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.
United Kingdom, Spain, Netherlands, Netherlands, Netherlands, Italy, United Kingdom, Spain, United Kingdom, Netherlands
Antigens, Differentiation, T-Lymphocyte, Male, Genotype, Autoimmune diseases, Pulmonary Fibrosis, Immunology, CD226 gene; systemic sclerosis; GWAS, Genoma humà, Polymorphism, Single Nucleotide, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Pulmonary fibrosis, Medical Subject Headings::Diseases::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic, Cohort Studies, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype, Rheumatology, Immunology and Allergy, Humans, Genetic Association Studies, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies, Scleroderma, Systemic, Malalties autoimmunitàries, Human genome, T Lineage-Specific Activation Antigen 1, NCMLS 1: Infection and autoimmunity N4i 4: Auto-immunity, transplantation and immunotherapy, Medical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers::Antigens, Differentiation::Antigens, Differentiation, T-Lymphocyte, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide, Genetic Variation, Medical Subject Headings::Check Tags::Female, Fibrosi pulmonar, NCEBP 2: Evaluation of complex medical interventions N4i 4: Auto-immunity, transplantation and immunotherapy, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Diseases::Respiratory Tract Diseases::Lung Diseases::Pulmonary Fibrosis, Scleroderma (Disease), Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies, Female, Esclerodèrmia, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation, Research Article
Antigens, Differentiation, T-Lymphocyte, Male, Genotype, Autoimmune diseases, Pulmonary Fibrosis, Immunology, CD226 gene; systemic sclerosis; GWAS, Genoma humà, Polymorphism, Single Nucleotide, Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans, Pulmonary fibrosis, Medical Subject Headings::Diseases::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Scleroderma, Systemic, Cohort Studies, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype, Rheumatology, Immunology and Allergy, Humans, Genetic Association Studies, Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies, Scleroderma, Systemic, Malalties autoimmunitàries, Human genome, T Lineage-Specific Activation Antigen 1, NCMLS 1: Infection and autoimmunity N4i 4: Auto-immunity, transplantation and immunotherapy, Medical Subject Headings::Chemicals and Drugs::Biological Factors::Biological Markers::Antigens, Differentiation::Antigens, Differentiation, T-Lymphocyte, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide, Genetic Variation, Medical Subject Headings::Check Tags::Female, Fibrosi pulmonar, NCEBP 2: Evaluation of complex medical interventions N4i 4: Auto-immunity, transplantation and immunotherapy, Medical Subject Headings::Check Tags::Male, Medical Subject Headings::Diseases::Respiratory Tract Diseases::Lung Diseases::Pulmonary Fibrosis, Scleroderma (Disease), Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies, Female, Esclerodèrmia, Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation, Research Article
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