ArticleArthritis and rheumatism2013
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.
Article in Arthritis and rheumatism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers.
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91 citing papers in PubMed, 174 citations in OpenAlex.
- Association of ETS1 polymorphism with granulomatosis with polyangiitis and proteinase 3-anti-neutrophil cytoplasmic antibody positive vasculitis in a Japanese population.Journal of human genetics · 2018Trial
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- Complement-Mediated Kidney Diseases: Role of Alternative Pathway in Glomerular Inflammation.Kidney international reports · 2026Review
- Current Overview of Multi-omics Analyses in Microscopic Polyangiitis and Granulomatosis with Polyangiitis.Internal medicine (Tokyo, Japan) · 2026Review
- Case report: Recurrence of anti-myeloperoxidase pauci-immune crescentic glomerulonephritis in a kidney transplant recipient; potential association with HLA antigens and seropositivity?Frontiers in immunology · 2026Article
- Identification of Renal Transcripts Associated with Kidney Function and Prognosis in ANCA-Associated Vasculitis.Journal of the American Society of Nephrology : JASN · 2026Article
- Can we cure vasculitis?Current opinion in immunology · 2025Review
- Immunopathology of Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Vasculitis.International journal of molecular sciences · 2025Review
- Characterizing the Cellular Constituents of Proximal Airway Disease in Granulomatosis With Polyangiitis.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2025Article
- Psoriasis Increases the Risk of ANCA Associated Vasculitis: Insights from A Propensity Score-Matched Study.ImmunoTargets and therapy · 2025Article
- Germline Human Leukocyte Antigen Status is Associated With Immunotherapy-Induced Pneumonitis and Treatment Response in Patients With Non-Small Cell Lung Cancer With High Programmed Death-Ligand 1 Expression.JTO clinical and research reports · 2025Article
- Childhood-Onset ANCA-Associated Vasculitis: From Genetic Studies to Advances in Pathogenesis, Classification and Novel Therapeutic Approaches.International journal of molecular sciences · 2024Review
- Characteristic changes in the mRNA expression profile of plasma exosomes from patients with MPO-ANCA-associated vasculitis and its possible correlations with pathogenesis.Clinical and experimental medicine · 2024Article
- Genetic and Non-Genetic Contributions to Eosinophilic Granulomatosis with Polyangiitis: Current Knowledge and Future Perspectives.Current issues in molecular biology · 2024Review
- Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome.Annals of the rheumatic diseases · 2024Article
- Polymorphisms of the SERPINA1 gene are associated with higher mortality in a Brazilian cohort of ANCA-associated vasculitis patients.Clinics (Sao Paulo, Brazil) · 2024Article
- Age-dependent genetic regulation of osteoarthritis: independent effects of immune system genes.Arthritis research & therapy · 2023Article
- Mapping Genetic Susceptibility to Stenosis in the Proximal Airway.The Laryngoscope · 2023Article
31 more citing papers are in PubMed but not listed here.
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29 authors at 18 institutions in 5 countries.
Funding
Abstract
objectiveTo identify genetic determinants of granulomatosis with polyangiitis (Wegener's) (GPA).
methodsWe carried out a genome-wide association study (GWAS) of 492 GPA cases and 1,506 healthy controls (white subjects of European descent), followed by replication analysis of the most strongly associated signals in an independent cohort of 528 GPA cases and 1,228 controls.
resultsGenome-wide significant associations were identified in 32 single-nucleotide polymorphic (SNP) markers across the HLA region, the majority of which were located in the HLA-DPB1 and HLA-DPA1 genes encoding the class II major histocompatibility complex (MHC) DPβ chain 1 and DPα chain 1 proteins, respectively. Peak association signals in these 2 genes, emanating from SNPs rs9277554 (for DPβ chain 1) and rs9277341 (DPα chain 1) were strongly replicated in an independent cohort (in the combined analysis of the initial cohort and the replication cohort, P = 1.92 × 10(-50) and 2.18 × 10(-39) , respectively). Imputation of classic HLA alleles and conditional analyses revealed that the SNP association signal was fully accounted for by the classic HLA-DPB1*04 allele. An independent single SNP, rs26595, near SEMA6A (the gene for semaphorin 6A) on chromosome 5, was also associated with GPA, reaching genome-wide significance in a combined analysis of the GWAS and replication cohorts (P = 2.09 × 10(-8) ).
conclusionWe identified the SEMA6A and HLA-DP loci as significant contributors to risk for GPA, with the HLA-DPB1*04 allele almost completely accounting for the MHC association. These two associations confirm the critical role of immunogenetic factors in the development of GPA.
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