Gene expression and regulation in systemic lupus erythematosus

摘要: Background Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. Genome-wide (GW) association studies have identified more than 40 disease-associated loci, together accounting for only 10–20% of disease heritability. Gene expression represents intermediate phenotype between DNA and phenotypic variation, provides insights regarding genetic epigenetic effects. We review data on gene regulation in SLE by our group other investigators. Materials methods Systematic PubMed search GW published since year 2000. Results Deregulation genes involved type I interferon signaling a consistent finding peripheral blood active severe patients. Upregulation granulocyte-specific transcripts especially bone marrow mononuclear cells (BMMCs), myeloid lineage nephritis, provide evidence pathogenic role these cells. network analysis BMMCs central regulators which could represent therapeutic targets high similarity non-Hodgkin lymphoma providing molecular basis reported two diseases. abnormalities driven deregulated certain microRNAs contribute to production, T- B-cell hyperactivity, hypomethylation, defective tissue response injury. Methylation arrays revealed alterations white cell methylation suggesting an important epigenetics environment. Conclusions Gene contributed characterization processes SLE. Integrated approaches utilizing transcriptome epigenome profiling will facilitate efforts towards molecular-based taxonomy.