Evidence map›Paper›PMID 36797040›Full record

ArticleAnnals of the rheumatic diseases2023

Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.

Lourdes Ortiz-Fernández, Elio G Carmona, Martin Kerick, Paul Lyons, Francisco David Carmona, Raquel López Mejías, Chiea Chuen Khor, Peter C Grayson, Enrico Tombetti, Lindi Jiang and 15 more

Open access · hybridAbstract read
In one paragraph

Article in Annals of the rheumatic diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
4.9field-weighted citation impact, top 4% of its field
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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.

  1. Pooled it
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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

25 authors at 19 institutions in 8 countries.

Lourdes Ortiz-FernándezInstitute of Parasitology and Biomedicine "López- Neyra", CSIC, Granada, Spain anamaort@ipb.csic.es lourdes@ipb.csic.es.ORCID 0000-0002-0247-4280
Elio G Carmona *Institute of Parasitology and Biomedicine "López- Neyra", CSIC, Granada, Spain.
Martin Kerick *Institute of Parasitology and Biomedicine "López- Neyra", CSIC, Granada, Spain.
Paul LyonsDepartment of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Francisco David CarmonaDepartamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica, Universidad de Granada, Granada, Spain.ORCID 0000-0002-1427-7639
Raquel López MejíasResearch Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, Santander, Spain.
Chiea Chuen KhorDuke-NUS Medical School, Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore Eye Research Institute, Singapore National Eye Centre, Singapore.
Peter C GraysonSystemic Autoimmunity Branch, NIAMS, National Institutes of Health, Bethesda, Maryland, USA.ORCID 0000-0002-8269-9438
Enrico TombettiDivision of Immunology, Transplantation and Infectious Diseases, San Raffaele Hospital, Milan, Italy.
Lindi JiangDepartment of Rheumatology, Zhongshan Hospital, Fudan University, Shanghai, China.
Haner DireskeneliDepartment of Internal Medicine, Division of Rheumatology, Marmara University, Faculty of Medicine, Istanbul, Turkey.
Guher Saruhan-DireskeneliDepartment of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
José-Luis Callejas-RubioSystemic Autoimmune Diseases Unit, San Cecilio University Hospital, Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
Augusto VaglioDepartment of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
Carlo SalvaraniRheumatology Unit, Azienda USL-IRCCS di Reggio Emilia and Azienda Ospedaliero - Universitaria di Modena, Università di Modena and Reggio Emilia, Reggio Emilia, Italy.ORCID 0000-0003-3708-3148
Jose Hernández-RodríguezDepartment of Autoimmune Diseases, Hospital Clinic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.ORCID 0000-0002-2357-2015
Maria Cinta CidDepartment of Autoimmune Diseases, Hospital Clinic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.ORCID 0000-0002-4730-0938
Ann W MorganSchool of Medicine and Leeds Institute for Data Analytics, University of Leeds, Leeds, UK.
Peter A MerkelDivision of Rheumatology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
David BurgnerMurdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Kenneth Gc SmithDepartment of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Miguel Angel Gonzalez-GayResearch Group on Genetic Epidemiology and Atherosclerosis in Systemic Diseases and in Metabolic Bone Diseases of the Musculoskeletal System, IDIVAL, University of Cantabria, Santander, Spain.ORCID 0000-0002-7924-7406
Amr H SawalhaDivision of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Javier MartinInstitute of Parasitology and Biomedicine "López- Neyra", CSIC, Granada, Spain.ORCID 0000-0002-2202-0622
Ana MarquezInstitute of Parasitology and Biomedicine "López- Neyra", CSIC, Granada, Spain anamaort@ipb.csic.es lourdes@ipb.csic.es.ORCID 0000-0001-9913-7688
Instituto de Parasitología y Biomedicina "López - Neyra" · ESConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESInstituto de Investigación Biosanitaria de Granada · ESUniversity of Cambridge · GBAgency for Science, Technology and Research · SGFudan University · CNInstituto de Investigación Marqués de Valdecilla · ESIstanbul University · TRIstituti di Ricovero e Cura a Carattere Scientifico · ITMarmara University · TRMeyer Children's Hospital · ITNational Institutes of Health · USRoyal Children's Hospital · AUUniversidad de Cantabria · ESUniversidad de Granada · ESUniversity of Leeds · GBUniversity of Pennsylvania · USUniversity of Pittsburgh · USVita-Salute San Raffaele University · IT

Funding

Vasculitis and Translational MedicineZIAAR041204 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI GRAYSON, PETER · 2015 to 2025
$15.4M
VCRC-VF FellowshipU54AR057319 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MERKEL, PETER A · 2009 to 2020
$12.5M
VASCULITIS CLINICAL RESEARCH NETWORK (VCRN): RARE DISEASEU54RR019497 · NCRR · BOSTON UNIVERSITY MEDICAL CAMPUS · PI MERKEL, PETER A · 2003 to 2008
$6.1M
Characterizing the Takayasu Arteritis Genetic Risk in RPS9/LILRB3R01AR070148 · NIAMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI SAWALHA, AMR H · 2017 to 2022
$1.7M
British Heart Foundation PG/13/64/30435Medical Research Council MR/N011775/1NCRR NIH HHS U54 RR019497NIAMS NIH HHS R01 AR070148NIAMS NIH HHS U54 AR057319
6 · The paper itself

Abstract

objectivesThe number of susceptibility loci currently associated with vasculitis is lower than in other immune-mediated diseases due in part to small cohort sizes, a consequence of the low prevalence of vasculitides. This study aimed to identify new genetic risk loci for the main systemic vasculitides through a comprehensive analysis of their genetic overlap.

methodsGenome-wide data from 8467 patients with any of the main forms of vasculitis and 29 795 healthy controls were meta-analysed using ASSET. Pleiotropic variants were functionally annotated and linked to their target genes. Prioritised genes were queried in DrugBank to identify potentially repositionable drugs for the treatment of vasculitis.

resultsSixteen variants were independently associated with two or more vasculitides, 15 of them representing new shared risk loci. Two of these pleiotropic signals, located close to

conclusionsWe identified new shared risk loci with functional impact in vasculitis and pinpointed potential causal genes, some of which could represent promising targets for the treatment of vasculitis.

Indexed as

Systemic VasculitisVasculitisApoptosis Regulatory ProteinsCTLA-4 AntigenDrug RepositioningGenetic Predisposition to DiseaseHumansApoptosis Regulatory ProteinsCTLA-4 AntigenTRIM35 protein, humanAutoimmunityPolymorphism, GeneticSystemic vasculitis

Identifiers

PMID36797040
PMCPMC10314028
OpenAlexW4321054280

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

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.