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<Emphasis Type="Italic">Cis</Emphasis>-regulation of <Emphasis Type="Italic">IRF5</Emphasis>expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines
Authors:Elisa Alonso-Perez  Marian Suarez-Gestal  Manuel Calaza  Tony Kwan  Jacek Majewski  Juan J Gomez-Reino  Antonio Gonzalez
Institution:(1) Laboratorio Investigacion 10 and Rheumatology Unit, Instituto de Investigacion Sanitaria-Hospital Clinico Universitario de Santiago, Travesia Choupana sn, Santiago de Compostela, E-15706, Spain;(2) Department of Human Genetics, McGill University, 1205 Dr Penfield Avenue, Montreal, H3A 1B1, Canada;(3) Department of Medicine, University of Santiago de Compostela, San Francisco sn, Santiago de Compostela, E-15782, Spain
Abstract:

Introduction  

Interferon regulatory factor 5 gene (IRF5) polymorphisms are strongly associated with several diseases, including systemic lupus erythematosus (SLE). The association includes risk and protective components. They could be due to combinations of functional polymorphisms and related to cis-regulation of IRF5 expression, but their mechanisms are still uncertain. We hypothesised that thorough testing of the relationships between IRF5 polymorphisms, expression data from multiple experiments and SLE-associated haplotypes might provide useful new information.
Keywords:systemic lupus erythematosus  IRF5  lymphoblastoid cell lines  cis-regulation  disease susceptibility  linear regression models
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