A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility
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 a...
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| Published in | American journal of human genetics Vol. 96; no. 4; pp. 565 - 580 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
02.04.2015
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1016/j.ajhg.2015.02.009 |
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| 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. |
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| AbstractList | 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. 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. 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 x 10..., 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 x 10...) and HLA-DQα1 47 (p = 4.02 x 10...), 56, and 76 (both p = 1.84 x 10...) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 x 10..., OR = 1.38), LRRC32 (rs10160518, p = 4.39 x 10..., OR = 1.20), and REL (rs115674477, p = 1.10 x 10..., 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. (ProQuest: ... denotes formulae/symbols omitted.) 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. 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. |
| Author | Raya, Enrique Ramentol-Sintas, Marc Worthington, Jane Cimmino, Marco A. Schirmer, Jan H. Kamath, Sanjeet Corbera-Bellalta, Marc Martínez, Lina González-Escribano, M. Francisca Pérez-Conesa, Mercedes Gregersen, Peter K. Green, Michael Tío, Laura Sanchez-Pernaute, Olga Franke, Andre Merkel, Peter A. Sopeña, Bernardo Addimanda, Olga Hernández-Rodríguez, José Molberg, Øyvind Wijmenga, Cisca Hordon, Lesley Santilli, Daniele Fernández-Nebro, Antonio Fanlo-Mateo, Patricia Moosig, Frank Martínez-Taboada, Víctor M. Morgan, Ann W. Ytterberg, Steven R. Caminal-Montero, Luis Martín, Javier Patel, Yusuf Carette, Simon de Miguel, Eugenio Escalante, Begoña Khalidi, Nader A. Muratore, Francesco Morado, Inmaculada C. Lunardi, Claudio Sáez-Comet, Luis Warrington, Kenneth J. Prieto-González, Sergio Barrett, Jennifer H. Ramirez, Giuseppe A. de Bakker, Paul I.W. Schönau, Verena Grau, Elena Bossini-Castillo, Lara Magro, César Salvarani, Carlo Moreland, Larry Marí-Alfonso, Begoña Forbess, Lindsy J. Hidalgo-Conde, Ana Gómez-Vaquero, Carmen Soriano, Alessandra Narv |
| AuthorAffiliation | 32 Division of Rheumatology, St. Joseph’s Healthcare, McMaster University, Hamilton, ON L8N 1Y2, Canada 45 Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Pinderfields Hospital, Wakefield WF1 4DG, UK 29 Department of Biostatistics, University of South Florida, Tampa, FL 33612, USA 3 School of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK 28 Division of Rheumatology, Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada 51 Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands 46 Department of Rheumatology, Ipswich Hospital NHS Trust, Ipswich IP4 5PD, UK 5 NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK; Arthritis Research UK Epidemiology Unit, University Of Manchester, Manchester M13 9NT, UK 50 Department of Rheumatology, Southend University Hospital NHS Foundation Trust, Westcliff-on-Se |
| AuthorAffiliation_xml | – name: 3 School of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK – name: 42 Department of Rheumatology, Harrogate and District NHS Foundation Trust, Harrogate HG2 7SX, UK – name: 11 Department of Rheumatology, Hospital Universitario de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Barcelona 08907, Spain – name: 7 Vasculitis Research Unit, Department of Autoimmune Diseases, Hospital Clínic, University of Barcelona, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona 08036, Spain – name: 51 Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands – name: 34 Penn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA – name: 20 Rheumatology Unit, Department of Internal Medicine, Azienda Ospedaliera Arcispedale Santa Maria Nuova, Istituto di Ricovero e Cura a Carattere Scientifico, Reggio Emilia 42123, Italy – name: 36 Section of Rheumatology, Boston University School of Medicine, Boston, MA 02118, USA – name: 43 Department of Rheumatology, York Teaching Hospital NHS Foundation Trust, York YO31 8HE, UK – name: 46 Department of Rheumatology, Ipswich Hospital NHS Trust, Ipswich IP4 5PD, UK – name: 47 Department of Rheumatology, Croydon Health Service NHS Trust, Croydon CR7 7YE, UK – name: 9 Department of Immunology, Hospital Universitario Virgen del Rocío (IBiS, CSIC, US), Sevilla 41013, Spain – name: 2 Leeds Institute of Rheumatic and Musculoskeletal Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS7 4SA, UK – name: 31 Center for Vasculitis Care and Research, Cleveland Clinic Foundation, Cleveland, OH 44195, USA – name: 37 Division of Rheumatology, Johns Hopkins University, Baltimore, MD 21224, USA – name: 27 Department of Rheumatology, Hospital of Southern Norway Trust, Kristiansand 4604, Norway – name: 4 Unit of Nephrology, University Hospital of Parma, Parma 43126, Italy – name: 40 The Feinstein Institute for Medical Research, North Shore – Long Island Jewish Health System, Manhasset, NY 11030, USA – name: 52 Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands – name: 35 Division of Rheumatology and Clinical Immunology, University of Pittsburgh, Pittsburgh, PA 15261, USA – name: 53 Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander 39008, Spain – name: 48 Department of Rheumatology, Hull and East Yorkshire NHS Trust, Hull HU3 2JZ, UK – name: 22 Hannover Medical School, Hannover 30625, Germany – name: 23 Vasculitis Clinic, Klinikum Bad Bramstedt & University Hospital of Schleswig Holstein, Bad Bramstedt 24576, Germany – name: 17 Unit of Internal Medicine and Rheumatology, University Hospital of Parma, Parma 43126, Italy – name: 32 Division of Rheumatology, St. Joseph’s Healthcare, McMaster University, Hamilton, ON L8N 1Y2, Canada – name: 14 Department of Medicine, Universita degli Studi di Verona, Verona 37134, Italy – name: 44 Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Dewsbury and District Hospital, Dewsbury WF13 4HS, UK – name: 18 Unit of Internal Medicine and Immunology, IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Milan 20132, Italy – name: 33 Division of Rheumatology, University of Utah, Salt Lake City, UT 84132, USA – name: 29 Department of Biostatistics, University of South Florida, Tampa, FL 33612, USA – name: 21 Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen 9700, the Netherlands – name: 8 Autoimmune Systemic Diseases Unit, Department of Internal Medicine, Hospital Vall d’Hebron, Autonomous University of Barcelona, Barcelona 08035, Spain – name: 24 Department of Rheumatology and Immunology, Universitätsklinikum Erlangen, Erlangen 91054, Germany – name: 12 Department of Rheumatology, Hospital Xeral-Calde, Lugo 27004, Spain – name: 15 Research Laboratory and Academic Division of Clinical Rheumatology, Department of Internal Medicine, University of Genova, Genova 16132, Italy – name: 10 Department of Rheumatology, Hospital Clínico San Carlos, Madrid 28040, Spain – name: 28 Division of Rheumatology, Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada – name: 13 Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico di Milano, Milan 20122, Italy – name: 26 Department of Rheumatology, Oslo University Hospital, Oslo 0424, Norway – name: 45 Department of Rheumatology, Mid Yorkshire Hospitals NHS Trust, Pinderfields Hospital, Wakefield WF1 4DG, UK – name: 5 NIHR Manchester Musculoskeletal Biomedical Research Unit, Manchester Academy of Health Sciences, Manchester, UK; Arthritis Research UK Epidemiology Unit, University Of Manchester, Manchester M13 9NT, UK – name: 16 Department of Clinical and Experimental Medicine, University of Parma, School of Medicine, Parma 43126, Italy – name: 39 Division of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA – name: 1 Instituto de Parasitología y Biomedicina “López-Neyra,” CSIC, PTS Granada, Granada 18016, Spain – name: 41 Department of Rheumatology, Leeds Teaching Hospitals NHS Trust, Leeds LS7 4SA, UK – name: 30 Division of Rheumatology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA – name: 50 Department of Rheumatology, Southend University Hospital NHS Foundation Trust, Westcliff-on-Sea SS0 0RY, UK – name: 19 Department of Clinical Medicine and Rheumatology, Campus Bio-Medico University, Rome 00128, Italy – name: 6 Department of Rheumatology, Hospital de la Princesa, IIS-Princesa, Madrid 28006, Spain – name: 25 Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany – name: 49 Department of Rheumatology, Staffordshire and Stoke-on-Trent Partnership NHS Trust, Staffordshire ST6 7AG, UK – name: 38 Department of Rheumatology, Hospital for Special Surgery, New York, NY 10021, USA |
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Paul I.W. organization: Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht 3584 CX, the Netherlands – sequence: 106 givenname: Jennifer H. surname: Barrett fullname: Barrett, Jennifer H. organization: School of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK – sequence: 108 givenname: Peter A. surname: Merkel fullname: Merkel, Peter A. organization: Penn Vasculitis Center, Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA – sequence: 109 givenname: Miguel A. surname: González-Gay fullname: González-Gay, Miguel A. organization: Department of Rheumatology, Hospital Universitario Marqués de Valdecilla, IDIVAL, Santander 39008, Spain – sequence: 110 givenname: Ann W. surname: Morgan fullname: Morgan, Ann W. organization: School of Medicine and NIHR-Leeds Musculoskeletal Biomedical Research Unit, University of Leeds, Leeds LS9 7TF, UK – sequence: 111 givenname: Javier surname: Martín fullname: Martín, Javier organization: Instituto de Parasitología y Biomedicina “López-Neyra,” CSIC, PTS Granada, Granada 18016, Spain |
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| Copyright | 2015 The Authors Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Apr 2, 2015 2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics |
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| Issue | 4 |
| Language | English |
| License | http://creativecommons.org/licenses/by/4.0 Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 These authors contributed equally to this work These authors contributed equally to this work and are co-senior authors |
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| Snippet | 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... |
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| SubjectTerms | Amino acids Cohort Studies Gene loci Genes, MHC Class II - genetics Genetic Association Studies Genetics Genomics Genotype Genotype & phenotype Giant Cell Arteritis - genetics Humans Multifactorial Inheritance - genetics Multivariate Analysis Odds Ratio Polymorphism Veins & arteries White People - genetics |
| Title | A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility |
| URI | https://dx.doi.org/10.1016/j.ajhg.2015.02.009 https://www.ncbi.nlm.nih.gov/pubmed/25817017 https://www.proquest.com/docview/1672910140 https://www.proquest.com/docview/1671213774 https://pubmed.ncbi.nlm.nih.gov/PMC4385191 |
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