Interferon III‐related IL28RA variant is associated with rheumatoid arthritis and systemic lupus erythematosus and specific disease sub‐phenotypes
| Autor: | Ivanio Alves Pereira, Gabriel Vaisam Castro, Sara Emelie Löfgren, Manuela Nunes Drehmer, Ilíada Rainha de Souza |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Adolescent Rheumatoid nodule Disease Polymorphism Single Nucleotide Risk Assessment Arthritis Rheumatoid Young Adult 03 medical and health sciences 0302 clinical medicine Rheumatology Risk Factors medicine Humans Lupus Erythematosus Systemic Genetic Predisposition to Disease 030212 general & internal medicine Allele skin and connective tissue diseases Genetic Association Studies Receptors Interferon Genetic association 030203 arthritis & rheumatology Autoimmune disease business.industry medicine.disease Phenotype Case-Control Studies Rheumatoid arthritis Immunology Disease Progression Rheumatoid vasculitis Female medicine.symptom business Serositis |
| Zdroj: | International Journal of Rheumatic Diseases. 24:49-55 |
| ISSN: | 1756-185X 1756-1841 |
| DOI: | 10.1111/1756-185x.14015 |
| Popis: | Background The interferon pathways have been commonly implicated in autoimmune disease development but the identity of the genes involved has not yet been fully clarified. Variation in genes involved in interferon pathways is expected to have a role in the etiology of these diseases. Methods The potential association of a polymorphism in the IL28RA gene, involved in these pathways, with susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) and disease-related phenotypes was investigated in 603 Brazilian individuals (354 well-characterized SLE and RA patients, and 249 controls). IL28RA (rs4649203) variant was genotyped by TaqMan assay. Statistical analysis was performed including both diseases and a comprehensive list of patient clinical manifestations. Results The rs4649203-G (minor) allele was associated with SLE and RA occurrence and was shown to be a risk factor for serositis and anemia among SLE patients as well as a protective factor for rheumatoid vasculitis and rheumatoid nodules in RA patients, suggesting an association with a milder form of the disease. Conclusions The IL28RA gene may contribute to SLE and RA susceptibility and to specific clinical manifestations of the diseases. |
| Databáze: | OpenAIRE |
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