Autores
Sergey V Kozyrev, Susanna Lewén, Prasad MV Linga Reddy, Bernardo Pons‐Estel, Argentine Collaborative Group, Torsten Witte, German Collaborative Group, Peter Junker, Helle Laustrup, Carmen Gutiérrez, Ana Suárez, Maria Francisca González‐Escribano, Javier Martín, Spanish Collaborative Group, Marta E Alarcón‐Riquelme
Fecha de publicación
2007/4
Revista
Arthritis & Rheumatism
Volumen
56
Número
4
Páginas
1234-1241
Editor
Wiley Subscription Services, Inc., A Wiley Company
Descripción
Objective
To determine whether specific isoforms of IRF5 are transcribed in patients with systemic lupus erythematosus (SLE) who have risk genotypes in the exon 1B donor splice site at single‐nucleotide polymorphism (SNP) no. rs2004640.
Methods
Peripheral blood mononuclear cells were obtained from SLE patients and healthy controls from Argentina, Spain, and Germany and from trio families from Spain and Denmark. A reporter assay was used to investigate the role of SNP no. rs2004640. IRF5 expression in relation to the genotypes of functional SNPs was analyzed using quantitative polymerase chain reaction. Sequencing and genotyping of the IRF5 gene was performed.
Results
Sequencing of complementary DNA from individuals with different genotypes showed 4 basic isoforms transcribed from all 5′‐untranslated regions (5′‐UTRs), suggesting no preferential isoform transcription based on …
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