Systemic lupus erythematosus (SLE) is an autoimmune disease with multiple organs and systems damaging, including the kidneys, skin, cardiovascular system, central and peripheral nervous systems, and blood. SLE patients also have immunologic abnormalities, particularly the production of a number of antinuclear antibodies and anti-double stranded DNA antibody (dsDNA). It has previously been reported that ~ 7.4-159.4/100,000 people suffer from SLE worldwide, and women more affected than men, especially in childbearing years . With complex interaction of immune dysfunction, genetic predisposition, and environmental factors, the pathogenesis of SLE isn’t completely understood.
Genetic susceptibility was showed in SLE patients. Major histocompatibility complex (MHC), HLA-DR2 and HLA-DR3 alleles and homozygous C4a deficiency are associated with high risk of SLE. In present gene study, the microarray analysis of lncRNA target prediction indicated the presence of 474 matched lncRNA‑mRNA pairs for 293 lncRNAs and 381 with differentially expressed (fold change, ≥ 3.0). However, no research show gene expression between SLE patterns and subtypes previously. So we want to investigate different gene expression in SLE patients to evaluate SLE subtypes for further diagnosis and treatment.
Next-generation sequencing (NGS) provides a powerful tool for identifying novel targets of epigenetics and their regulation pathway . Using NGS platforms, RNA-Seq can detect more features of both genomic and transcriptomic targets such as single nucleotide variants, gene expression, transcript isoforms, gene fusions, etc. It was reported that 8,868 lncRNA and 6,876 mRNAs were highly differently expressed in SLE patients. In this study, we studied a RNA-Seq dataset from Gene Expression Omnibus (GEO) database. We investigated the signaling pathways and analyzed the differentially expressed genes (DEGs) for the dataset.
The Mucocutaneous lesions occurs in more than 80% patients. The most typical SLE pattern was malar rash, that "butterfly" rash over cheeks and bridge of nose. Frequency of clinical manifestations in prospective cohort of 1,000 patients with SLE showed arthritis in 48.1% patients, malar rash in 31.1% active nephropathy in 27.9%, neurologic involvement in 19.4%, Raynaud phenomenon in 16.3% patients. It was few report discussing the relationship between SLE pattern and RNA expression. In this study, we studied a RNA-Seq dataset from Gene Expression Omnibus (GEO) database and RNA expression for SLE patients. We investigated the signaling pathways and analyzed the differentially expressed genes (DEGs) for the dataset.