Evidence map›Paper›PMID 42874292›Full record

ArticleEBioMedicine2026

Exploration of the genetic architecture of ANCA-associated vasculitis.

Jinyoung Byun, Vikram R Shaw, Catherine Zhu, Younghun Han, Ryan Sun, Zhihui Zhang, Xiangjun Xiao, Benjamin D Pinder, Jinyi Zhang, Yohannes Tadesse and 32 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in EBioMedicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

42 authors.

Jinyoung ByunInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA; Department of Internal Medicine, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.
Vikram R ShawInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Catherine ZhuInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Younghun HanInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA; Department of Internal Medicine, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.
Ryan SunDepartment of Biostatistics, M.D. Anderson Cancer Center, University of Texas, Houston, TX, USA.
Zhihui ZhangInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA; Department of Genetics, M.D. Anderson Cancer Center, University of Texas, Houston, TX, USA.
Xiangjun XiaoInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA.
Benjamin D PinderMount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute and University of Toronto, Toronto, Ontario, Canada.
Jinyi ZhangMount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute and University of Toronto, Toronto, Ontario, Canada.
Yohannes TadesseMount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute and University of Toronto, Toronto, Ontario, Canada.
Thomas R RileyUniversity of Pennsylvania, Philadelphia, PA, USA.
Sharon ChungUniversity of California, San Francisco, CA, USA.
David CuthbertsonUniversity of South Florida, Tampa, FL, USA.
Paul F DellaripaBrigham and Women's Hospital, Boston, MA, USA.
Anisha B DuaNorthwestern University, Chicago, IL, USA.
Ora Gewurz-SingerUniversity of Michigan, Ann Arbor, MI, USA.
Lindsy J ForbessCedars-Sinai Medical Center, Los Angeles, CA, USA.
Carol A LangfordCleveland Clinic, Cleveland, OH, USA.
Nader KhalidiMcMaster University, Hamilton, Ontario, Canada.
Curry KoeningUniversity of Utah, Salt Lake City, UT, USA.
Alfred D MahrHospital Saint-Louis, Paris, France.
Carol McAlearUniversity of Pennsylvania, Philadelphia, PA, USA.
Paul A MonachBoston University, Boston, MA, USA.
Larry MorelandUniversity of Pittsburgh, Pittsburgh, PA, USA.
Christian PagnouxMount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.
E Philip SeoJohns Hopkins University, Baltimore, MD, USA.
Ulrich SpecksMayo Clinic, Rochester, MN, USA.
Robert F SpieraHospital for Special Surgery, New York, NY, USA.
Antoine SreihUniversity of Pennsylvania, Philadelphia, PA, USA.
Jason M SpringerUniversity of Kansas Medical Center, Kansas, KS, USA.
E William St ClairDuke University Medical Center, Durham, NC, USA.
Kenneth J WarringtonMayo Clinic, Rochester, MN, USA.
Steven R YtterbergMayo Clinic, Rochester, MN, USA.
Jeffrey C EdbergUniversity of Alabama at Birmingham, Birmingham, AL, USA.
Peter C GraysonSystemic Autoimmunity Branch, NIAMS, National Institutes of Health, Bethesda, MD, 20892, USA.
David JayneUniversity of Cambridge, Cambridge, UK.
Rona SmithUniversity of Cambridge, Cambridge, UK.
Michael WalshMcMaster University, Hamilton, Ontario, Canada.
Peter A MerkelUniversity of Pennsylvania, Philadelphia, PA, USA.
Katherine A SiminovitchMount Sinai Hospital, Lunenfeld-Tanenbaum Research Institute and Toronto General Research Institute and University of Toronto, Toronto, Ontario, Canada.
Christopher I AmosInstitute for Clinical and Translational Research, Baylor College of Medicine, Houston, TX, USA; Department of Internal Medicine, University of New Mexico Health Sciences Center, Albuquerque, NM, USA. Electronic address: CIAmos@salud.unm.edu.
Vasculitis Clinical Research Consortium

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAntineutrophil cytoplasmic antibody-associated vasculitis (AAV) is a complex autoimmune disease with distinct clinical and serological subtypes. Previous genome-wide association studies (GWAS) have identified several susceptibility loci, particularly within the major histocompatibility complex (MHC), but the broader genetic architecture and causal variants underlying AAV remain incompletely defined.

methodsWe conducted a genome-wide association study including 2068 individuals with AAV and 3258 controls of European ancestry. The discovery cohort comprised a previously published GWAS dataset supplemented with newly recruited cases. Analyses were stratified by clinical (granulomatosis with polyangiitis [GPA] and microscopic polyangiitis [MPA]) and serological (proteinase 3-ANCA [PR3] and myeloperoxidase-ANCA [MPO]) subtypes. Findings were evaluated in an independent case cohort of 465 individuals. We performed conditional and joint analyses of the HLA region, functional fine-mapping, linkage disequilibrium score regression, and integrative multi-omics analyses to prioritise candidate causal variants and assess genetic correlations.

findingsWe identified eight previously unreported loci and replicated four known loci associated with AAV at genome-wide significance. Within the HLA region, HLA-DPB1∗04 showed the strongest association with AAV, GPA, and PR3 subtypes, whereas HLA-DRB1∗04 was most strongly associated with MPO and MPA. Conditional analyses identified additional independent effects, including amino acid variation in HLA-DQA1. SNP-based heritability estimates indicated a substantial genetic contribution to AAV (h

interpretationThese findings expand the genetic landscape of AAV and support a complex and heterogeneous genetic architecture involving both MHC and non-MHC loci. The integration of genetic association, functional annotation, and network analyses suggests that disease susceptibility is mediated through multiple biological pathways, including immune regulation and neutrophil function. These insights may inform future mechanistic studies, improved disease stratification, and the development of targeted therapeutic strategies.

fundingNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of General Medical Sciences.

Indexed as

ANCAGeneticsRiskSusceptibilityVasculitis

Identifiers

PMID42874292
PMCPMC13683857

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.