tailieunhanh - Báo cáo y học: "Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học General Psychiatry cung cấp cho các bạn kiến thức về ngành y đề tài: Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association: analysis of multiple experiments with lymphoblastoid cell lines. | Alonso-Perez et al. Arthritis Research Therapy 2011 13 R80 http content 13 3 R80 RESEARCH ARTICLE Open Access Cis-regulation of IRF5 expression is unable to fully account for systemic lupus erythematosus association analysis of multiple experiments with lymphoblastoid cell lines 1 f 1 f 1 2 2 13 Elisa Alonso-Perez Marian Suarez-Gestal Manuel Calaza Tony Kwan Jacek Majewski Juan J Gomez-Reino and Antonio Gonzalez1 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. Methods Expression data from four published microarray hybridisation experiments with lymphoblastoid cell lines 57 to 181 cell lines were retrieved. Genotypes of 109 IRF5 polymorphisms including four known functional polymorphisms were considered. The best linear regression models accounting for the IRF5 expression data were selected by using a forward entry procedure. SLE-associated IRF5 haplotypes were correlated with the expression data and with the best cis-regulatory models. Results A large fraction of variability in IRF5 expression was accounted for by linear regression models with IRF5 polymorphisms but at a different level in each expression data set. Also the best models from each expression data set were different although there was overlap between them. The SNP introducing an early polyadenylation signal rs10954213 was included in the best models for two of the expression data sets and in good models for the other two data sets. The SLE risk haplotype was .