ArticleFrontiers in immunology2023
The genomic landscape of ANCA-associated vasculitis: Distinct transcriptional signatures, molecular endotypes and comparison with systemic lupus erythematosus.
Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 12 citations in OpenAlex.
- The Effect of Intranasal Niclosamide on Nasal Symptoms in Patients with Antineutrophil Cytoplasmic Antibody-Associated Vasculitis.Arthritis & rheumatology (Hoboken, N.J.) · 2026Trial
- Article
- Artificial Intelligence and Machine Learning in Rheumatology and Systemic Inflammatory Diseases: From Pattern Recognition to Signal Analysis and Clinical Decision Support.Journal of clinical medicine · 2026Review
- Current Overview of Multi-omics Analyses in Microscopic Polyangiitis and Granulomatosis with Polyangiitis.Internal medicine (Tokyo, Japan) · 2026Review
- Genetic burden across core genes of the PI3K-AKT-mTOR pathway is associated with susceptibility to microscopic polyangiitis: a Chinese cohort study.Frontiers in immunology · 2026Article
- A stronger type I interferon signature distinguishes ANCA-associated vasculitis phenotypes and predicts kidney prognosis.Kidney international · 2026Article
- Hypoxia-Associated Molecular Subtypes Reveal Immune Checkpoint, Ferroptosis, and m6A Regulatory Heterogeneity in Pediatric Vasculitis.Human mutation · 2026Article
- Beyond clinical criteria: emerging biomarkers and advanced imaging in the diagnosis, monitoring and treatment of vasculitides.Frontiers in medicine · 2026Review
- Investigating potential biomarkers associated with antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis using Mendelian randomization and transcriptomic analysis.Arthritis research & therapy · 2025Article
- A 28-Year-Old Man with Stridor and Dyspnea.Journal of clinical medicine · 2025Article
- Multi-omics-driven biomarker discovery in autoimmune diseases: a comprehensive review.Frontiers in immunology · 2025Review
- NETs: a new target for autoimmune disease.Frontiers in immunology · 2025Review
- The plasma proteome reveals distinct signaling pathways associated with PR3-ANCA positive and MPO-ANCA positive vasculitis.Frontiers in immunology · 2025Article
- Immune profiling-based targeting of pathogenic T cells with ustekinumab in ANCA-associated glomerulonephritis.Nature communications · 2024Article
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Authors and funding
13 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAVs) present with a complex phenotype and are associated with high mortality and multi-organ involvement. We sought to define the transcriptional landscape and molecular endotypes of AAVs and compare it to systemic lupus erythematosus (SLE). Methods: We performed whole blood mRNA sequencing from 30 patients with AAV (granulomatosis with polyangiitis/GPA and microscopic polyangiitis/MPA) combined with functional enrichment and network analysis for aberrant pathways. Key genes and pathways were validated in an independent cohort of 18 AAV patients. Co-expression network and hierarchical clustering analysis, identified molecular endotypes. Multi-level transcriptional overlap analysis to SLE was based on our published data from 142 patients. Results: We report here that "Pan-vasculitis" signature contained 1,982 differentially expressed genes, enriched in leukocyte differentiation, cytokine signaling, type I and type II IFN signaling and aberrant B-T cell immunity. Active disease was characterized by signatures linked to cell cycle checkpoints and metabolism pathways, whereas ANCA-positive patients exhibited a humoral immunity transcriptional fingerprint. Differential expression analysis of GPA and MPA yielded an IFN-g pathway (in addition to a type I IFN) in the former and aberrant expression of genes related to autophagy and mRNA splicing in the latter. Unsupervised molecular taxonomy analysis revealed four endotypes with neutrophil degranulation, aberrant metabolism and B-cell responses as potential mechanistic drivers. Transcriptional perturbations and molecular heterogeneity were more pronounced in SLE. Molecular analysis and data-driven clustering of AAV uncovered distinct transcriptional pathways that could be exploited for targeted therapy. Discussion: We conclude that transcriptomic analysis of AAV reveals distinct endotypes and molecular pathways that could be targeted for therapy. The AAV transcriptome is more homogenous and less fragmented compared to the SLE which may account for its superior rates of response to therapy.
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