ArticleAmerican journal of human genetics2017
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.
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Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 2 of them syntheses that pooled it.
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37citing papers in PubMed, 2 pooled it
5.0field-weighted citation impact, top 4% of its field
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Who cites it
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 102 citations in OpenAlex.
- Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.The Lancet. Rheumatology · 2024Pooled it
- Gene and miRNA expression in giant cell arteritis-a concise systematic review of significantly modified studies.Clinical rheumatology · 2019Pooled it
- Large vessel vasculitis reframed: integrating conceptual shifts and evidence into practice for Takayasu arteritis and giant cell arteritis.Journal of rheumatic diseases · 2026Review
- Challenges and Future Trends in Large Vessel Vasculitis.Circulation · 2026Review
- Uncovering the New Biology of Giant Cell Arteritis to Guide Therapeutic Strategies.Journal of clinical medicine · 2025Review
- A coding single nucleotide polymorphism in the interleukin-6 receptor enhances IL-6 signalling in CD4 T cells and predicts treatment response to tocilizumab in giant cell arteritis.Annals of the rheumatic diseases · 2025Article
- Imaging Findings in Giant Cell Arteritis: Don't Turn a Blind Eye to the Obvious!AJNR. American journal of neuroradiology · 2025Review
- Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study.Rheumatology (Oxford, England) · 2024Article
- Review
- Current Perspectives in Giant Cell Arteritis: Can We Better Connect Pathogenesis and Treatment?Medicina (Kaunas, Lithuania) · 2024Review
- Giant Cell Arteritis: Advances in Understanding Pathogenesis and Implications for Clinical Practice.Cells · 2024Review
- Human leucocyte antigens and Japanese patients with polymyalgia rheumatica: the protective effect ofRMD open · 2024Article
- The contributions of deleterious rare alleles in NLRP12 and inflammasome-related genes to polymyalgia rheumatica.Scientific reports · 2024Article
- Plasminogen missense variants and their involvement in cardiovascular and inflammatory disease.Frontiers in cardiovascular medicine · 2024Review
- HLA allele-calling using multi-ancestry whole-exome sequencing from the UK Biobank identifies 129 novel associations in 11 autoimmune diseases.Communications biology · 2023Article
- Giant cell arteritis: reviewing the advancing diagnostics and management.Eye (London, England) · 2023Review
- Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing.Annals of the rheumatic diseases · 2023Article
- New Insights into the Pathogenesis of Giant Cell Arteritis: Mechanisms Involved in Maintaining Vascular Inflammation.Journal of clinical medicine · 2022Review
- Large-vessel vasculitis.Nature reviews. Disease primers · 2022Review
- Looking ahead: giant-cell arteritis in 10 years time.Therapeutic advances in musculoskeletal disease · 2022Review
Corrections and comments
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Authors and funding
56 authors at 20 institutions in 11 countries.
F David CarmonaInstituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain; Departamento de Genética e Instituto de Biotecnología, Universidad de Granada, Granada 18016, Spain. Electronic address: dcarmona@ipb.csic.es.
Augusto VaglioUnit of Nephrology, University Hospital of Parma, Parma 43126, Italy.
Sarah L MackieSchool of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.
José Hernández-RodríguezVasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain.
Paul A MonachSection of Rheumatology, Boston University, Boston, MA 02118, USA.
Santos CastañedaDepartment of Rheumatology, Hospital de la Princesa, IIS-IP, Madrid 28006, Spain.
Roser SolansAutoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain.
Inmaculada C MoradoDepartment of Rheumatology, Hospital Clínico San Carlos, Madrid 28040, Spain.
Javier NarváezDepartment of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Barcelona 08907, Spain.
Marc Ramentol-SintasAutoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain.
Colin T PeaseSchool of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.
Bhaskar DasguptaDepartment of Rheumatology, Southend University Hospital NHS Foundation Trust, Westcliff-on-Sea SS0 0RY, UK.
Richard WattsDepartment of Rheumatology, Ipswich Hospital NHS Trust, Ipswich IP4 5PD, UK.
Nader KhalidiDivision of Rheumatology, McMaster University, Hamilton, ON L8N 1Y2, Canada.
Carol A LangfordDivision of Rheumatology, Cleveland Clinic, Cleveland, OH 44195, USA.
Steven YtterbergDivision of Rheumatology, Mayo Clinic, Rochester, MN 55905, USA.
Luigi BoiardiRheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy.
Lorenzo BerettaReferral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan 20122, Italy.
Marcello GovoniDepartment of Rheumatology, Azienda Ospedaliero Universitaria S. Anna, University of Ferrara, Ferrara 44121, Italy.
Giacomo EmmiDepartment of Experimental and Clinical Medicine, University of Florence, Florence 50134, Italy.
Francesco BonattiDepartment of Clinical and Experimental Medicine, Medical Genetics Unit, University of Parma, Parma 43124, Italy.
Marco A CimminoResearch Laboratory and Academic Division of Clinical Rheumatology, Department of Internal Medicine, University of Genova, Genova 16132, Italy.
Torsten WitteHannover Medical School, Hannover 30625, Germany.
Thomas NeumannKlinik für Innere Medizin III, University-Hospital Jena, Jena 07743, Germany.
Julia HolleVasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt 24576, Germany.
Verena SchönauDepartment of Rheumatology and Immunology, Universitätsklinikum Erlangen, Erlangen 91054, Germany.
Laurent SaillerService de Médecine Interne, Hopital de Purpan, CHU de Toulouse, UMR 1027, INSERM, Universite de Toulouse, Toulouse 31059, France.
Thomas PapoService de Médecine Interne, Hôpital Bichat, Université Paris-Diderot, Paris 75018, France.
Julien HarocheDepartment of Internal Medicine & French Reference Center for Rare Auto-immune & Systemic Diseases, Assistance Publique-Hôpitaux de Paris (AP-HP), Pitié-Salpêtrière Hospital, Paris 75013, France.
Alfred MahrDepartment of Internal Medicine, Hospital Saint-Louis ECSTRA Team, Epidemiology and Biostatistics, Sorbonne Paris Cité Research Center UMR 1153, Inserm, University Paris Diderot, Paris 75010, France.
Luc MouthonDepartment of Internal Medicine, Cochin Hospital, National Referral Center for Rare Autoimmune and Systemic Diseases, AP-HP, Université Paris Descartes, Paris 75014, France.
Øyvind MolbergDepartment of Rheumatology, Oslo University Hospital, Oslo 0424, Norway.
Andreas P DiamantopoulosDepartment of Rheumatology, Hospital of Southern Norway Trust, Kristiansand 4604, Norway.
Alexandre VoskuylAmsterdam Rheumatology and Immunology Center, VU University Medical Center, Amsterdam 1007 MB, the Netherlands.
Elisabeth BrouwerDepartment of Rheumatology and Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen 9713 GZ, Netherlands.
Thomas DaikelerRheumatology Department of Internal Medicine, University Hospital, Basel 4056, Switzerland.
Christoph T BergerTranslational Immunology and Medical Outpatient Clinic, Departments of Biomedicine and Internal Medicine, University Hospital, Basel 4056, Switzerland.
Eamonn S MolloyDepartment of Rheumatology, Centre for Arthritis and Rheumatic Diseases, St Vincent's University Hospital, Dublin Academic Medical Centre, Dublin 4, Ireland.
Lorraine O'NeillDepartment of Rheumatology, Centre for Arthritis and Rheumatic Diseases, St Vincent's University Hospital, Dublin Academic Medical Centre, Dublin 4, Ireland.
Daniel BlockmansDepartment of General Internal Medicine, University Hospital Gasthuisberg, Leuven 3000, Belgium.
Benedicte A LieDepartment of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo 0450, Norway.
Paul MclarenSwiss Institute of Bioinformatics, Lausanne 1015, Switzerland.
Timothy J VyseDivisions of Genetics and Molecular Medicine and Immunology, Infection and Inflammatory Disease, King's College London, London SE1 9RT, UK.
Cisca WijmengaDepartment of Genetics, University Medical Center Groningen, Groningen 9713 AV, the Netherlands.
Yannick AllanoreParis Descartes University, Rheumatology A department, Sorbonne Paris Cité, Cochin Hospital, Paris 75014, France.
Bobby P C KoelemanDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands.
Spanish CGA Group
UKGCA Consortium
Vasculitis Clinical Research Consortium
Jennifer H BarrettSchool of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.
María C CidVasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain.
Carlo SalvaraniRheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy.
Peter A MerkelVasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Ann W MorganSchool of Medicine, University of Leeds and NIHR-Leeds Musculoskeletal Biomedical Research Unit, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.
Miguel A González-GayDepartment of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, University of Cantabria, Santander 39008, Spain.
Javier MartínInstituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain.
Instituto de Parasitología y Biomedicina "López - Neyra" · ESSt. Vincent's University Hospital · IEUniversitat Autònoma de Barcelona · ESUniversity Medical Center Groningen · NLUniversity of Leeds · GBAzienda Ospedaliera S.Maria · ITCleveland Clinic · USConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESHospital Clínico San Carlos · ESLeeds Teaching Hospitals NHS Trust · GBOslo University Hospital · NOUniversity Hospital of Basel · CHUniversity of Genoa · ITUniversity of Parma · ITAmsterdam UMC Location VUmc · NLArcispedale Sant'Anna · ITAssistance Publique – Hôpitaux de Paris · FRBoston University · USDélégation Paris 5 · FRDélégation Paris 7 · FR
Funding
Clinical and Translational Science Collaborative of ClevelandUL1TR000439 · NCATS · CASE WESTERN RESERVE UNIVERSITY · PI KONSTAN, MICHAEL W. · 2012 to 2016
$50.0MVCRC-VF FellowshipU54AR057319 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MERKEL, PETER A · 2009 to 2020
$12.5MVASCULITIS CLINICAL RESEARCH NETWORK (VCRN): RARE DISEASEU54RR019497 · NCRR · BOSTON UNIVERSITY MEDICAL CAMPUS · PI MERKEL, PETER A · 2003 to 2008
$6.1MDepartment of Health NIHR-CS-012-016Medical Research Council G1001518Medical Research Council MR/L01629X/1Medical Research Council MR/N011775/1NCATS NIH HHS UL1 TR000439NCRR NIH HHS U54 RR019497NIAMS NIH HHS U54 AR057319Wellcome Trust
Abstract
Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10
Indexed as
AllelesGenetic VariationGenome-Wide Association StudyAgedAged, 80 and overCohort StudiesEuropeFemaleGenetic Predisposition to DiseaseGiant Cell ArteritisHumansMaleNeovascularization, PhysiologicPlasminogenPolymorphism, Single NucleotideProlyl HydroxylasesP4HA2 protein, humanPlasminogenProlyl Hydroxylases
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