Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study.

Case-Control Studies Female Genetic Predisposition to Disease / genetics Genome-Wide Association Study / methods Humans Inflammatory Bowel Diseases / genetics Male Polymorphism, Single Nucleotide / genetics Takayasu Arteritis / genetics
GWAS HLA Takayasu arteritis chromatin interaction eQTL epigenetic genetic association genetic risk scroe vasculitis

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
07 01 2021
Historique:
received: 13 08 2020
accepted: 17 11 2020
pubmed: 15 12 2020
medline: 3 2 2021
entrez: 14 12 2020
Statut: ppublish

Résumé

Takayasu arteritis is a rare inflammatory disease of large arteries. We performed a genetic study in Takayasu arteritis comprising 6,670 individuals (1,226 affected individuals) from five different populations. We discovered HLA risk factors and four non-HLA susceptibility loci in VPS8, SVEP1, CFL2, and chr13q21 and reinforced IL12B, PTK2B, and chr21q22 as robust susceptibility loci shared across ancestries. Functional analysis proposed plausible underlying disease mechanisms and pinpointed ETS2 as a potential causal gene for chr21q22 association. We also identified >60 candidate loci with suggestive association (p < 5 × 10

Identifiants

DOI: 10.1016/j.ajhg.2020.11.014 PMID: 33308445 PMC: PMC7820633
pubmed: 33308445
pii: S0002-9297(20)30411-0
doi: 10.1016/j.ajhg.2020.11.014
pmc: PMC7820633
pii:
doi:

Types de publication

Journal Article Meta-Analysis Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

84-99

Subventions

Organisme : Wellcome Trust
ID : WT107881
Pays : United Kingdom
Organisme : NCRR NIH HHS
ID : U54 RR019497
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : British Heart Foundation
ID : PG/16/96/32557
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_UU_00002/4
Pays : United Kingdom
Organisme : NIAMS NIH HHS
ID : U54 AR057319
Pays : United States
Organisme : NIAMS NIH HHS
ID : U01 AR051874
Pays : United States
Organisme : NIAMS NIH HHS
ID : R01 AR070148
Pays : United States
Organisme : Medical Research Council
ID : MR/N011775/1
Pays : United Kingdom

Informations de copyright

Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Auteurs

Lourdes Ortiz-Fernández (L)

Division of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA.

Güher Saruhan-Direskeneli (G)

Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 34093, Turkey.

Fatma Alibaz-Oner (F)

Department of Internal Medicine, Division of Rheumatology, Marmara University, Faculty of Medicine, Istanbul 34890, Turkey.

Sema Kaymaz-Tahra (S)

Department of Internal Medicine, Division of Rheumatology, Marmara University, Faculty of Medicine, Istanbul 34890, Turkey.

Patrick Coit (P)

Division of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA; Graduate Program in Immunology, University of Michigan, Ann Arbor, MI 48109, USA.

Xiufang Kong (X)

Department of Rheumatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.

Allan P Kiprianos (AP)

National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.

Robert T Maughan (RT)

National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.

Sibel Z Aydin (SZ)

Department of Internal Medicine, Division of Rheumatology, Marmara University, Faculty of Medicine, Istanbul 34890, Turkey; Faculty of Medicine, Division of Rheumatology, the Ottawa Hospital Research Institute, University of Ottawa, Ottawa, ON K1Y 4E9, Canada.

Kenan Aksu (K)

Department of Internal Medicine, Division of Rheumatology, Ege University, Faculty of Medicine, Izmir 35100, Turkey.

Gokhan Keser (G)

Department of Internal Medicine, Division of Rheumatology, Ege University, Faculty of Medicine, Izmir 35100, Turkey.

Sevil Kamali (S)

Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 34903, Turkey.

Murat Inanc (M)

Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 34903, Turkey.

Jason Springer (J)

Division of Allergy, Clinical Immunology and Rheumatology, Department of Medicine, University of Kansas Medical Center, Kansas City, KS 66160, USA.

Servet Akar (S)

Department of Internal Medicine, Division of Rheumatology, Katip Çelebi University, Faculty of Medicine, İzmir 35620, Turkey; Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University, Faculty of Medicine, Izmir 35340, Turkey.

Fatos Onen (F)

Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University, Faculty of Medicine, Izmir 35340, Turkey.

Nurullah Akkoc (N)

Department of Internal Medicine, Division of Rheumatology, Dokuz Eylül University, Faculty of Medicine, Izmir 35340, Turkey; Department of Internal Medicine, Division of Rheumatology, Celal Bayar University, Faculty of Medicine, Manisa 45140, Turkey.

Nader A Khalidi (NA)

Division of Rheumatology, St. Joseph's Healthcare, McMaster University, Hamilton, ON L8N 1Y2, Canada.

Curry Koening (C)

Division of Rheumatology, University of Utah, Salt Lake City, UT 84132, USA.

Omer Karadag (O)

Department of Internal Medicine, Division of Rheumatology, Hacettepe University, Faculty of Medicine, Ankara 06100, Turkey.

Sedat Kiraz (S)

Department of Internal Medicine, Division of Rheumatology, Hacettepe University, Faculty of Medicine, Ankara 06100, Turkey.

Lindsy Forbess (L)

Division of Rheumatology, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.

Carol A Langford (CA)

Department of Rheumatology, Cleveland Clinic, Cleveland, OH 44195, USA.

Carol A McAlear (CA)

Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA.

Zeynep Ozbalkan (Z)

Department of Internal Medicine, Division of Rheumatology, Hitit University, Faculty of Medicine, Çorum 19200, Turkey; Department of Internal Medicine, Division of Rheumatology, Ankara Numune Training and Research Hospital, Ankara 06100, Turkey.

Sule Yavuz (S)

Division of Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala 751 85, Sweden.

Gozde Yildirim Çetin (GY)

Department of Internal Medicine, Division of Rheumatology, Sutcu Imam University, Faculty of Medicine, Kahramanmaraş 46050, Turkey.

Nilufer Alpay-Kanitez (N)

Department of Internal Medicine, Division of Rheumatology, Koc University, Faculty of Medicine, Istanbul 34450, Turkey.

Sharon Chung (S)

Russell/Engleman Rheumatology Research Center, Department of Medicine, University of California, San Francisco, San Francisco, CA 94143, USA.

Askin Ates (A)

Department of Internal Medicine, Division of Rheumatology, Ankara Numune Training and Research Hospital, Ankara 06100, Turkey; Department of Internal Medicine, Division of Rheumatology, Ankara University, Faculty of Medicine, Ankara 06100, Turkey.

Yasar Karaaslan (Y)

Department of Internal Medicine, Division of Rheumatology, Ankara Numune Training and Research Hospital, Ankara 06100, Turkey.

Kathleen McKinnon-Maksimowicz (K)

Division of Rheumatology and Clinical Immunology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA; Division of Rheumatology, Henry Ford Health System, Detroit, MI 48202, USA.

Paul A Monach (PA)

Section of Rheumatology, Boston University School of Medicine, Boston, MA 02118, USA.

Hüseyin T E Ozer (HTE)

Department of Internal Medicine, Division of Rheumatology, Cukurova University, Faculty of Medicine, Adana 01330, Turkey.

Emire Seyahi (E)

Department of Internal Medicine, Division of Rheumatology, Istanbul University-Cerrahpaşa, Faculty of Medicine, Istanbul 34098, Turkey.

Izzet Fresko (I)

Department of Internal Medicine, Division of Rheumatology, Istanbul University-Cerrahpaşa, Faculty of Medicine, Istanbul 34098, Turkey.

Ayse Cefle (A)

Department of Internal Medicine, Division of Rheumatology, Kocaeli University, Faculty of Medicine, Kocaeli 41380, Turkey.

Philip Seo (P)

Division of Rheumatology, Johns Hopkins University, Baltimore, MD 21224, USA.

Kenneth J Warrington (KJ)

Division of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

Mehmet A Ozturk (MA)

Department of Internal Medicine, Division of Rheumatology, Gazi University, Faculty of Medicine, Ankara 06500, Turkey.

Steven R Ytterberg (SR)

Division of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

Veli Cobankara (V)

Department of Internal Medicine, Division of Rheumatology, Pamukkale University, Faculty of Medicine, Denizli 20160, Turkey.

Ahmet Mesut Onat (AM)

Division of Rheumatology, Gaziantep Medical Park Hospital, Gaziantep 27060, Turkey; Department of Internal Medicine, Division of Rheumatology, Gaziantep University, Faculty of Medicine, Gaziantep 27310, Turkey.

Nurşen Duzgun (N)

Department of Internal Medicine, Division of Rheumatology, Ankara University, Faculty of Medicine, Ankara 06100, Turkey.

Muge Bıcakcıgil (M)

Department of Internal Medicine, Division of Rheumatology, Yeditepe University, Faculty of Medicine, Istanbul 34752, Turkey.

Sibel P Yentür (SP)

Department of Physiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul 34093, Turkey.

Lindsay Lally (L)

Department of Medicine, Division of Rheumatology, Hospital for Special Surgery, New York, NY 10021, USA.

Angelo A Manfredi (AA)

Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Hospital, Milan 20132, Italy.

Elena Baldissera (E)

Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Hospital, Milan 20132, Italy.

Eren Erken (E)

Department of Internal Medicine, Division of Rheumatology, Cukurova University, Faculty of Medicine, Adana 01330, Turkey.

Ayten Yazici (A)

Department of Internal Medicine, Division of Rheumatology, Kocaeli University, Faculty of Medicine, Kocaeli 41380, Turkey.

Bünyamin Kısacık (B)

Division of Rheumatology, Gaziantep Medical Park Hospital, Gaziantep 27060, Turkey; Department of Internal Medicine, Division of Rheumatology, Gaziantep University, Faculty of Medicine, Gaziantep 27310, Turkey.

Timuçin Kaşifoğlu (T)

Department of Internal Medicine, Division of Rheumatology, Osman Gazi University, Faculty of Medicine, Eskişehir 26030, Turkey.

Ediz Dalkilic (E)

Department of Internal Medicine, Division of Rheumatology, Uludag University, Faculty of Medicine, Bursa 16059, Turkey.

David Cuthbertson (D)

Department of Biostatistics, University of South Florida, Tampa, FL 33612, USA.

Christian Pagnoux (C)

Division of Rheumatology, Mount Sinai Hospital, Toronto, ON M5L 3L9, Canada.

Antoine Sreih (A)

Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA.

Guillermo Reales (G)

Cambridge Institute of Therapeutic Immunology & Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Puddicombe Way, Cambridge CB2 0AW, UK; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.

Chris Wallace (C)

Cambridge Institute of Therapeutic Immunology & Infectious Disease, Jeffrey Cheah Biomedical Centre, Cambridge Biomedical Campus, University of Cambridge, Puddicombe Way, Cambridge CB2 0AW, UK; Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; MRC Biostatistics Unit, University of Cambridge, Cambridge Institute of Public Health, Forvie Site, Robinson Way, Cambridge Biomedical Campus, Cambridge CB2 0SR, UK.

Jonathan D Wren (JD)

Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Biochemistry and Molecular Biology, The University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

Deborah S Cunninghame-Graham (DS)

Department of Medical and Molecular Genetics, King's College London, London WC2R 2LS, UK.

Timothy J Vyse (TJ)

Department of Medical and Molecular Genetics, King's College London, London WC2R 2LS, UK.

Ying Sun (Y)

Department of Rheumatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.

Huiyong Chen (H)

Department of Rheumatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China.

Peter C Grayson (PC)

Systemic Autoimmunity Branch, NIAMS, National Institutes of Health, Bethesda, MD 20892, USA.

Enrico Tombetti (E)

Division of Immunology, Transplantation and Infectious Diseases, San Raffaele Hospital, Milan 20132, Italy; Department of Biomedical and Clinical Sciences L. Sacco, Milan University, Milan 20157, Italy.

Lindi Jiang (L)

Department of Rheumatology, Zhongshan Hospital, Fudan University, Shanghai 200032, China; Evidence-Based Medicine Center, Fudan University, Shanghai 200032, China.

Justin C Mason (JC)

National Heart and Lung Institute, Imperial College London, London SW3 6LY, UK.

Peter A Merkel (PA)

Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, Philadelphia, PA 19104, USA.

Haner Direskeneli (H)

Department of Internal Medicine, Division of Rheumatology, Marmara University, Faculty of Medicine, Istanbul 34890, Turkey.

Amr H Sawalha (AH)

Division of Rheumatology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, PA 15224, USA; Division of Rheumatology and Clinical Immunology, Department of Medicine, University of Pittsburgh, Pittsburgh, PA 15261, USA; Lupus Center of Excellence, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA; Department of Immunology, University of Pittsburgh, Pittsburgh, PA 15213, USA. Electronic address: asawalha@pitt.edu.

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Classifications MeSH

questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études cas-témoins › Identification of susceptibility loci for...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Identification of susceptibility loci for...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Identification of susceptibility loci for...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Identification of susceptibility loci for...
questionsmedicales.fr › Maladies de l'appareil digestif › Maladies gastro-intestinales › Maladies intestinales › Maladies inflammatoires intestinales › Identification of susceptibility loci for...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Identification of susceptibility loci for...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Dermatoses vasculaires › Maladie de Takayashu › Identification of susceptibility loci for...