ArticleAmerican journal of human genetics2015
A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.
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Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 6 of them syntheses that pooled it.
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75citing papers in PubMed, 6 pooled it
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Who cites it
75 citing papers in PubMed, 6 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- Prevalence of diplopia among giant cell arteritis patients: a systematic review and meta-analysis.Eye (London, England) · 2026Pooled it
- Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome.Communications biology · 2025Pooled it
- Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.The Lancet. Rheumatology · 2024Pooled it
- Cross-phenotype analysis of Immunochip data identifiesAnnals of the rheumatic diseases · 2018Pooled it
- Analysis of the common genetic component of large-vessel vasculitides through a meta-Immunochip strategy.Scientific reports · 2017Pooled it
- Association of HLA-DRB1 amino acid residues with giant cell arteritis: genetic association study, meta-analysis and geo-epidemiological investigation.Arthritis research & therapy · 2015Pooled it
- Efficacy of first-line tocilizumab therapy in early polymyalgia rheumatica: a prospective longitudinal study.Annals of the rheumatic diseases · 2016Trial
- Exploring the Vasculitis-Tumors Link: Epidemiological Patterns, Mechanistic Insights, and Clinical Implications.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Biomarkers in Primary Systemic Vasculitides: Narrative Review.International journal of molecular sciences · 2026Review
- Article
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- Predictors of Permanent Vision Loss in Giant Cell Arteritis.Neuro-ophthalmology (Aeolus Press) · 2025Article
- An overview of HLA variants in COVID-19 vaccine-induced autoimmunity.International journal of molecular epidemiology and genetics · 2025Review
- Article
- Estimating overdiagnosis in giant cell arteritis diagnostic pathways using genetic data: genetic association study.Rheumatology (Oxford, England) · 2024Article
- Transient Monocular Visual Loss (Amaurosis Fugax): How Does Age Impact Diagnosis?Ophthalmology and therapy · 2024Review
- The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.RMD open · 2024Article
- Review
- Current Perspectives in Giant Cell Arteritis: Can We Better Connect Pathogenesis and Treatment?Medicina (Kaunas, Lithuania) · 2024Review
- Human leucocyte antigens and Japanese patients with polymyalgia rheumatica: the protective effect ofRMD open · 2024Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
74 authors at 20 institutions in 8 countries.
F David CarmonaInstituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain. Electronic address: dcarmona@ipb.csic.es.
Sarah L MackieLeeds Institute of Rheumatic and Musculoskeletal Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS7 4SA, UK.
Jose-Ezequiel MartínInstituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain.
John C TaylorSchool of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK.
Augusto VaglioUnit of Nephrology, University Hospital of Parma, Parma 43126, Italy.
Stephen EyreNIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK; Arthritis Research UK Epidemiology Unit, University Of Manchester, Manchester M13 9NT, UK.
Lara Bossini-CastilloInstituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain.
Santos CastañedaDepartment of Rheumatology, Hospital de la Princesa, IIS-Princesa, Madrid 28006, Spain.
Maria 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.
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.
Sergio Prieto-GonzálezVasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain.
Roser SolansAutoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain.
Marc Ramentol-SintasAutoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d'Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain.
M Francisca González-EscribanoDepartment of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla 41013, Spain.
Lourdes Ortiz-FernándezDepartment of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla 41013, 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.
José A Miranda-FilloyDepartment of Rheumatology, Hospital Xeral-Calde, Lugo 27004, Spain.
Spanish GCA Group
Lorenzo BerettaReferral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan 20122, Italy.
Claudio LunardiDepartment of Medicine, Universita degli Studi di Verona, Verona 37134, Italy.
Marco A CimminoResearch Laboratory and Academic Division of Clinical Rheumatology, Department of Internal Medicine, University of Genova, Genova 16132, Italy.
Davide GianfredaDepartment of Clinical and Experimental Medicine, University of Parma, School of Medicine, Parma 43126, Italy.
Daniele SantilliUnit of Internal Medicine and Rheumatology, University Hospital of Parma, Parma 43126, Italy.
Giuseppe A RamirezUnit of Internal Medicine and Immunology, IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Milan 20132, Italy.
Alessandra SorianoDepartment of Clinical Medicine and Rheumatology, Campus Bio-Medico University, Rome 00128, Italy.
Francesco MuratoreRheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy.
Giulia PazzolaRheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy.
Olga AddimandaRheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy.
Cisca WijmengaDepartment of Genetics, University of Groningen, University Medical Center Groningen, Groningen 9700, the Netherlands.
Torsten WitteHannover Medical School, Hannover 30625, Germany.
Jan H SchirmerVasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt 24576, Germany.
Frank MoosigVasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt 24576, Germany.
Verena SchönauDepartment of Rheumatology and Immunology, Universitätsklinikum Erlangen, Erlangen 91054, Germany.
Andre FrankeInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
Øyvind PalmDepartment of Rheumatology, Oslo University Hospital, Oslo 0424, Norway.
Øyvind MolbergDepartment of Rheumatology, Oslo University Hospital, Oslo 0424, Norway.
Andreas P DiamantopoulosDepartment of Rheumatology, Hospital of Southern Norway Trust, Kristiansand 4604, Norway.
Simon CaretteDivision of Rheumatology, Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada.
David CuthbertsonDepartment of Biostatistics, University of South Florida, Tampa, FL 33612, USA.
Lindsy J ForbessDivision of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Gary S HoffmanCenter for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Nader A KhalidiDivision of Rheumatology, St. Joseph's Healthcare, McMaster University, Hamilton, ON L8N 1Y2, Canada.
Curry L KoeningDivision of Rheumatology, University of Utah, Salt Lake City, UT 84132, USA.
Carol A LangfordCenter for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH 44195, USA.
Carol A McAlearPenn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Larry MorelandDivision of Rheumatology and Clinical Immunology, University of Pittsburgh, Pittsburgh, PA 15261, USA.
Paul A MonachSection of Rheumatology, Boston University School of Medicine, Boston, MA 02118, USA.
Christian PagnouxDivision of Rheumatology, Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada.
Philip SeoDivision of Rheumatology, Johns Hopkins University, Baltimore, MD 21224, USA.
Robert SpieraDepartment of Rheumatology, Hospital for Special Surgery, New York, NY 10021, USA.
Antoine G SreihPenn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kenneth J WarringtonDivision of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Steven R YtterbergDivision of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Peter K GregersenThe Feinstein Institute for Medical Research, North Shore - Long Island Jewish Health System, Manhasset, NY 11030, USA.
Colin T PeaseDepartment of Rheumatology, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK.
Andrew GoughDepartment of Rheumatology, Harrogate and District NHS Foundation Trust, Harrogate HG2 7SX, UK.
Michael GreenDepartment of Rheumatology, York Teaching Hospital NHS Foundation Trust, York YO31 8HE, UK.
Lesley HordonDepartment of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Dewsbury and District Hospital, Dewsbury WF13 4HS, UK.
Stephen JarrettDepartment of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Pinderfields Hospital, Wakefield WF1 4DG, UK.
Richard WattsDepartment of Rheumatology, Ipswich Hospital NHS Trust, Ipswich IP4 5PD, UK.
Sarah LevyDepartment of Rheumatology, Croydon Health Service NHS Trust, Croydon CR7 7YE, UK.
Yusuf PatelDepartment of Rheumatology, Hull and East Yorkshire NHS Trust, Hull HU3 2JZ, UK.
Sanjeet KamathDepartment of Rheumatology, Staffordshire and Stoke-on-Trent Partnership NHS Trust, Staffordshire ST6 7AG, UK.
Bhaskar DasguptaDepartment of Rheumatology, Southend University Hospital NHS Foundation Trust, Westcliff-on-Sea SS0 0RY, UK.
Jane WorthingtonNIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK; Arthritis Research UK Epidemiology Unit, University Of Manchester, Manchester M13 9NT, UK.
Bobby P C KoelemanDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands.
Paul I W de BakkerDepartment of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands; Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands.
Jennifer H BarrettSchool of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK.
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 MerkelPenn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA.
Miguel A González-GayDepartment of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander 39008, Spain.
Ann W MorganSchool of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK.
Javier MartínInstituto de Parasitología y Biomedicina "López-Neyra," CSIC, PTS Granada, Granada 18016, Spain.
Azienda Ospedaliera S.Maria · ITInstituto de Parasitología y Biomedicina "López - Neyra" · ESUniversity of Leeds · GBUniversity of Parma · ITUniversity of Pennsylvania · USCleveland Clinic · USConsorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESHNO Bad Bramstedt · DEHospital Universitario Virgen del Rocío · ESHospital Xeral Calde · ESMayo Clinic in Arizona · USMid Yorkshire Hospitals NHS Trust · GBMount Sinai Hospital · CAOslo University Hospital · NOUniversitat Autònoma de Barcelona · ESUniversity Medical Center Utrecht · NLUniversity of Genoa · ITVersus Arthritis · GBBellvitge University Hospital · ESBoston University · US
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 MANMKBRU-2012-1Department of Health NIHR-CS-012-016Medical Research Council MR/L01629X/1NCATS NIH HHS UL1 TR000439NCRR NIH HHS U54 RR019497NIAMS NIH HHS U54 AR057319NIAMS NIH HHS U54AR057319Wellcome Trust
Abstract
We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1(∗)04. An omnibus test on polymorphic amino acid positions highlighted DRβ1 13 (p = 4.08 × 10(-43)) and HLA-DQα1 47 (p = 4.02 × 10(-46)), 56, and 76 (both p = 1.84 × 10(-45)) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 × 10(-6), OR = 1.38), LRRC32 (rs10160518, p = 4.39 × 10(-6), OR = 1.20), and REL (rs115674477, p = 1.10 × 10(-5), OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function.
Indexed as
Cohort StudiesGenes, MHC Class IIGenetic Association StudiesGenotypeGiant Cell ArteritisHumansMultifactorial InheritanceMultivariate AnalysisOdds RatioWhite People
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