Differential gene expression analysis of ankylosing spondylitis shows deregulation of the HLA-DRB, HLA-DQB, ITM2A, and CTLA4 genes

Abstract Background Ankylosing spondylitis (AS) is a rare inflammatory disorder affecting the spinal joints. Although we know some of genetic factors that are associated with disease, molecular basis this illness has not yet been fully elucidated, and genes involved in AS pathogenesis have entirely identified. The current study aimed at constructing gene network may serve as an signature biomarker, both which will help disease diagnosis identification therapeutic targets. Previously published expression profiles 16 patients gender- age-matched controls were profiled on Illumina HumanHT-12 V3.0 Expression BeadChip platform mined. Patients Portuguese, 21 to 64 years old, diagnosed based modified New York criteria, had Bath Spondylitis Disease Activity Index scores > 4 Functional 4. All receiving only NSAIDs and/or sulphasalazine. enrichment pathway analysis performed create interaction differentially expressed genes. Results ITM2A , ICOS VSIG10L CD59 TRAC CTLA-4 among significantly AS, but most downregulated HLA-DRB6 HLA-DRB5 HLA-DRB4 HLA-DRB3 HLA-DRB1 HLA-DQB1 mostly regulation immune system processes, parts cell membrane, signaling related T receptor antigen receptor, addition overlaps IL2 STAT signaling, well androgen response. over-represented pathways data set “ RUNX1 FOXP3 control development regulatory lymphocytes (Tregs)” “GABA activation” pathways. Conclusions Comprehensive reveals significant multitude important These networks might biomarkers for can potentially diagnosing identifying future targets treatment.