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Seventy-five genetic loci influencing the human red blood cell

Author

Listed:
  • Pim van der Harst

    (University of Groningen, University Medical Center Groningen
    University of Groningen, University Medical Center Groningen)

  • Weihua Zhang

    (Imperial College London
    Ealing Hospital NHS Trust)

  • Irene Mateo Leach

    (University of Groningen, University Medical Center Groningen)

  • Augusto Rendon

    (University of Cambridge
    NHS Blood and Transplant
    MRC Biostatistics Unit, Institute of Public Health
    NIHR Cambridge Biomedical Research Centre)

  • Niek Verweij

    (University of Groningen, University Medical Center Groningen)

  • Joban Sehmi

    (Ealing Hospital NHS Trust
    National Heart and Lung Institute, Imperial College London)

  • Dirk S. Paul

    (Wellcome Trust Sanger Institute, Hinxton)

  • Ulrich Elling

    (Institute of Molecular Biotechnology of the Austrian Academy of Sciences)

  • Hooman Allayee

    (University of Southern California Keck School of Medicine)

  • Xinzhong Li

    (Institute of Clinical Sciences, Imperial College London
    NIHR Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust and Imperial College London)

  • Aparna Radhakrishnan

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre
    Wellcome Trust Sanger Institute, Hinxton)

  • Sian-Tsung Tan

    (Ealing Hospital NHS Trust
    National Heart and Lung Institute, Imperial College London)

  • Katrin Voss

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre)

  • Christian X. Weichenberger

    (Center for Biomedicine, European Academy Bozen/Bolzano (EURAC))

  • Cornelis A. Albers

    (University of Cambridge
    NHS Blood and Transplant
    Wellcome Trust Sanger Institute, Hinxton)

  • Abtehale Al-Hussani

    (Imperial College London)

  • Folkert W. Asselbergs

    (University Medical Center Utrecht
    Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht
    Biomedical Genetics, University Medical Center Utrecht)

  • Marina Ciullo

    (Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”-CNR)

  • Fabrice Danjou

    (Clinica Pediatrica 2a, Ospedale Regionale Microcitemie ASL8, 09121 Cagliari, Italy.)

  • Christian Dina

    (Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1087, BP 70721 44007 Nantes cedex, 1 Nantes, France.
    Centre National de la Recherche Scientifique (CNRS) UMR 6291, BP 70721 44007 Nantes cedex 1, Nantes, France
    School of Medecine, Nantes University)

  • Tõnu Esko

    (Estonian Genome Center of University of Tartu
    Institute of Molecular and Cell Biology, University of Tartu)

  • David M. Evans

    (MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol)

  • Lude Franke

    (University of Groningen, University Medical Center Groningen)

  • Martin Gögele

    (Center for Biomedicine, European Academy Bozen/Bolzano (EURAC))

  • Jaana Hartiala

    (University of Southern California Keck School of Medicine)

  • Micha Hersch

    (University of Lausanne
    Swiss Institute of Bioinformatics)

  • Hilma Holm

    (deCODE genetics)

  • Jouke-Jan Hottenga

    (VU University)

  • Stavroula Kanoni

    (Wellcome Trust Sanger Institute, Hinxton)

  • Marcus E. Kleber

    (Mannheim Institute of Public Health, Social and Preventive Medicine, Medical Faculty of Mannheim, University of Heidelberg
    LURIC Study nonprofit LLC)

  • Vasiliki Lagou

    (Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
    Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Claudia Langenberg

    (MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital)

  • Lorna M. Lopez

    (The University of Edinburgh
    Centre for Cognitive Ageing and Cognitive Epidemiology, The University of Edinburgh)

  • Leo-Pekka Lyytikäinen

    (Fimlab Laboratories, Tampere University Hospital
    University of Tampere School of Medicine)

  • Olle Melander

    (Lund University)

  • Federico Murgia

    (Institute of Population Genetics, National Research Council of Italy)

  • Ilja M. Nolte

    (University of Groningen, University Medical Center Groningen)

  • Paul F. O’Reilly

    (Imperial College London)

  • Sandosh Padmanabhan

    (Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow)

  • Afshin Parsa

    (University of Maryland School of Medicine)

  • Nicola Pirastu

    (Institute for Maternal and Child Health–IRCCS “Burlo Garofolo”–Trieste, University of Trieste, 34137 Trieste, Italy.)

  • Eleonora Porcu

    (Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.)

  • Laura Portas

    (Institute of Population Genetics, National Research Council of Italy)

  • Inga Prokopenko

    (Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford
    Wellcome Trust Centre for Human Genetics, University of Oxford)

  • Janina S. Ried

    (Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health)

  • So-Youn Shin

    (Wellcome Trust Sanger Institute, Hinxton)

  • Clara S. Tang

    (Queensland Institute of Medical Research)

  • Alexander Teumer

    (Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald)

  • Michela Traglia

    (San Raffaele Scientific Institute)

  • Sheila Ulivi

    (Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”- Trieste)

  • Harm-Jan Westra

    (University of Groningen, University Medical Center Groningen)

  • Jian Yang

    (University of Queensland Diamantina Institute, The University of Queensland, Princess Alexandra Hospital)

  • Jing Hua Zhao

    (MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital)

  • Franco Anni

    (Clinica Pediatrica 2a, Ospedale Regionale Microcitemie ASL8, 09121 Cagliari, Italy.)

  • Abdel Abdellaoui

    (VU University)

  • Antony Attwood

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre
    Wellcome Trust Sanger Institute, Hinxton)

  • Beverley Balkau

    (Inserm, CESP Centre for research in Epidemiology and Population Health, U1018, Villejuif F-94807, France.
    University Paris Sud 11, UMRS 1018)

  • Stefania Bandinelli

    (Geriatric Unit, Azienda Sanitaria Firenze)

  • François Bastardot

    (Centre Hospitalier Universitaire Vaudois
    University of Lausanne)

  • Beben Benyamin

    (Queensland Institute of Medical Research
    Queensland Brain Institute, The University of Queensland)

  • Bernhard O. Boehm

    (University Hospital)

  • William O. Cookson

    (National Heart and Lung Institute, Imperial College London)

  • Debashish Das

    (The Hatter Cardiovascular Institute, University College London)

  • Paul I. W. de Bakker

    (Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht
    Biomedical Genetics, University Medical Center Utrecht
    Brigham and Women’s Hospital, Harvard Medical School
    Program in Medical and Population Genetics, Broad Institute of Harvard and MIT)

  • Rudolf A. de Boer

    (University of Groningen, University Medical Center Groningen)

  • Eco J. C. de Geus

    (VU University)

  • Marleen H. de Moor

    (VU University)

  • Maria Dimitriou

    (Nutrition and Dietetics, Harokopio University)

  • Francisco S. Domingues

    (Center for Biomedicine, European Academy Bozen/Bolzano (EURAC))

  • Angela Döring

    (Institute of Epidemiology I and Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health)

  • Gunnar Engström

    (Lund University)

  • Gudmundur Ingi Eyjolfsson

    (The Laboratory in Mjodd)

  • Luigi Ferrucci

    (Clinical Research Branch, National Institute on Aging)

  • Krista Fischer

    (Estonian Genome Center of University of Tartu)

  • Renzo Galanello

    (Clinica Pediatrica 2a, Ospedale Regionale Microcitemie ASL8, 09121 Cagliari, Italy.)

  • Stephen F. Garner

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre)

  • Bernd Genser

    (Mannheim Institute of Public Health, Social and Preventive Medicine, Medical Faculty of Mannheim, University of Heidelberg)

  • Quince D. Gibson

    (University of Maryland School of Medicine
    Instituto de Saúde Coletiva, Federal University of Bahia)

  • Giorgia Girotto

    (Institute for Maternal and Child Health–IRCCS “Burlo Garofolo”–Trieste, University of Trieste, 34137 Trieste, Italy.)

  • Daniel Fannar Gudbjartsson

    (deCODE genetics)

  • Sarah E. Harris

    (Centre for Cognitive Ageing and Cognitive Epidemiology, The University of Edinburgh
    Medical Genetics Section, The University of Edinburgh)

  • Anna-Liisa Hartikainen

    (Institute of Clinical Sciences, Obstetrics and Gynecology, University of Oulu)

  • Claire E. Hastie

    (Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow)

  • Bo Hedblad

    (Lund University)

  • Thomas Illig

    (Research Unit of Molecular Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health
    Hannover Unified Biobank, Hannover Medical School)

  • Jennifer Jolley

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre)

  • Mika Kähönen

    (Tampere University Hospital
    University of Tampere School of Medicine)

  • Ido P. Kema

    (University of Groningen, University Medical Center Groningen)

  • John P. Kemp

    (MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol)

  • Liming Liang

    (Harvard School of Public Health, Cambridge, Massachusetts 02115, USA.)

  • Heather Lloyd-Jones

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre)

  • Ruth J. F. Loos

    (MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital)

  • Stuart Meacham

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre
    Wellcome Trust Sanger Institute, Hinxton)

  • Sarah E. Medland

    (Queensland Institute of Medical Research)

  • Christa Meisinger

    (Institute of Epidemiology II, Helmholtz Zentrum München, German Research Center for Environmental Health)

  • Yasin Memari

    (Wellcome Trust Sanger Institute, Hinxton
    Kings College London)

  • Evelin Mihailov

    (Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”-CNR)

  • Kathy Miller

    (Ealing Hospital NHS Trust)

  • Miriam F. Moffatt

    (National Heart and Lung Institute, Imperial College London)

  • Matthias Nauck

    (Institute of Clinical Chemistry and Laboratory Medicine, University Medicine Greifswald)

  • Maria Novatchkova

    (Institute of Molecular Biotechnology of the Austrian Academy of Sciences)

  • Teresa Nutile

    (Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”-CNR)

  • Isleifur Olafsson

    (Landspitali University Hospital)

  • Pall T. Onundarson

    (Faculty of Medicine, University of Iceland
    Laboratory of Hematology and Coagulation Disorder Center, Landspitali University Hospital)

  • Debora Parracciani

    (Genetic Park of Ogliastra, Perdasdefogu)

  • Brenda W. Penninx

    (VU University Medical Centre
    University of Groningen, University Medical Center Groningen
    Leiden University Medical Centre)

  • Lucia Perseu

    (Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.)

  • Antonio Piga

    (University of Torino)

  • Giorgio Pistis

    (San Raffaele Scientific Institute)

  • Anneli Pouta

    (Institute of Health Sciences, University of Oulu
    National Institute of Health and Welfare, Aapistie 1, P.O. Box 310, FIN-90101 Oulu, Finland.)

  • Ursula Puc

    (Institute of Molecular Biotechnology of the Austrian Academy of Sciences)

  • Olli Raitakari

    (Turku University Hospital
    Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku)

  • Susan M. Ring

    (The School of Social and Community Medicine, University of Bristol)

  • Antonietta Robino

    (Institute for Maternal and Child Health–IRCCS “Burlo Garofolo”–Trieste, University of Trieste, 34137 Trieste, Italy.)

  • Daniela Ruggiero

    (Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”-CNR)

  • Aimo Ruokonen

    (Institute of Diagnostics, University of Oulu)

  • Aude Saint-Pierre

    (Center for Biomedicine, European Academy Bozen/Bolzano (EURAC))

  • Cinzia Sala

    (San Raffaele Scientific Institute)

  • Andres Salumets

    (Competence Centre on Reproductive Medicine and Biology
    Institute of General and Molecular Pathology, University of Tartu)

  • Jennifer Sambrook

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre)

  • Hein Schepers

    (University of Groningen, University Medical Center Groningen
    University of Groningen, University Medical Center Groningen)

  • Carsten Oliver Schmidt

    (Institute for Community Medicine, University Medicine Greifswald)

  • Herman H. W. Silljé

    (University of Groningen, University Medical Center Groningen)

  • Rob Sladek

    (Faculty of Medicine, McGill University)

  • Johannes H. Smit

    (VU University Medical Centre)

  • John M. Starr

    (Centre for Cognitive Ageing and Cognitive Epidemiology, The University of Edinburgh
    Geriatric Medicine Unit, The University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, UK.)

  • Jonathan Stephens

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre)

  • Patrick Sulem

    (deCODE genetics)

  • Toshiko Tanaka

    (Clinical Research Branch, National Institute on Aging)

  • Unnur Thorsteinsdottir

    (deCODE genetics
    Faculty of Medicine, University of Iceland)

  • Vinicius Tragante

    (University Medical Center Utrecht)

  • Wiek H. van Gilst

    (University of Groningen, University Medical Center Groningen)

  • L. Joost van Pelt

    (University of Groningen, University Medical Center Groningen)

  • Dirk J. van Veldhuisen

    (University of Groningen, University Medical Center Groningen)

  • Uwe Völker

    (Interfaculty Institute for Genetics and Functional Genomics, University Medicine Greifswald)

  • John B. Whitfield

    (Queensland Institute of Medical Research)

  • Gonneke Willemsen

    (VU University)

  • Bernhard R. Winkelmann

    (ClinPhenomics Study Center)

  • Gerald Wirnsberger

    (Institute of Molecular Biotechnology of the Austrian Academy of Sciences)

  • Ale Algra

    (Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht
    Utrecht Stroke Center, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht)

  • Francesco Cucca

    (Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.
    Università di Sassari)

  • Adamo Pio d’Adamo

    (Institute for Maternal and Child Health–IRCCS “Burlo Garofolo”–Trieste, University of Trieste, 34137 Trieste, Italy.)

  • John Danesh

    (University of Cambridge)

  • Ian J. Deary

    (The University of Edinburgh
    Centre for Cognitive Ageing and Cognitive Epidemiology, The University of Edinburgh)

  • Anna F. Dominiczak

    (Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow)

  • Paul Elliott

    (Imperial College London
    MRC-HPA Centre for Environment and Health, Imperial College London)

  • Paolo Fortina

    (Thomas Jefferson University Jefferson Medical College
    Università La Sapienza)

  • Philippe Froguel

    (Centre National de la Recherche Scientifique (CNRS)-Unité mixte de recherche (UMR) 8199, Lille Pasteur Institute
    School of Public Health, Imperial College London)

  • Paolo Gasparini

    (Institute for Maternal and Child Health–IRCCS “Burlo Garofolo”–Trieste, University of Trieste, 34137 Trieste, Italy.)

  • Andreas Greinacher

    (Institute for Immunology and Transfusion Medicine, University Medicine Greifswald)

  • Stanley L. Hazen

    (Center for Cardiovascular Diagnostics and Prevention, Lerner Research Institute, Cleveland Clinic)

  • Marjo-Riitta Jarvelin

    (Imperial College London
    Institute of Health Sciences, University of Oulu
    MRC-HPA Centre for Environment and Health, Imperial College London
    National Institute for Health and Welfare)

  • Kay Tee Khaw

    (Clinical Gerontology Unit, Box 251, Addenbrooke’s Hospital, Hills Road, Cambridge CB2 2QQ, UK.)

  • Terho Lehtimäki

    (Fimlab Laboratories, Tampere University Hospital
    University of Tampere School of Medicine)

  • Winfried Maerz

    (Mannheim Institute of Public Health, Social and Preventive Medicine, Medical Faculty of Mannheim, University of Heidelberg
    Synlab Academy, D-68165 Mannheim, Germany.)

  • Nicholas G. Martin

    (Queensland Institute of Medical Research)

  • Andres Metspalu

    (Estonian Genome Center of University of Tartu
    Institute of Molecular and Cell Biology, University of Tartu)

  • Braxton D. Mitchell

    (University of Maryland School of Medicine)

  • Grant W. Montgomery

    (Queensland Institute of Medical Research)

  • Carmel Moore

    (University of Cambridge)

  • Gerjan Navis

    (University of Groningen, University Medical Center Groningen)

  • Mario Pirastu

    (Institute of Population Genetics, National Research Council of Italy)

  • Peter P. Pramstaller

    (Center for Biomedicine, European Academy Bozen/Bolzano (EURAC)
    General Central Hospital
    University of Lübeck, D-23538 Lübeck, Germany.)

  • Ramiro Ramirez-Solis

    (Wellcome Trust Sanger Institute, Hinxton)

  • Eric Schadt

    (Institute for Genomics and Multiscale Biology, Mount Sinai School of Medicine)

  • James Scott

    (National Heart and Lung Institute, Imperial College London)

  • Alan R. Shuldiner

    (University of Maryland School of Medicine
    Geriatric Research and Education Clinical Center, Veterans Administration Medical Center)

  • George Davey Smith

    (MRC Centre for Causal Analyses in Translational Epidemiology, School of Social and Community Medicine, University of Bristol)

  • J. Gustav Smith

    (Lund University
    Lund University)

  • Harold Snieder

    (University of Groningen, University Medical Center Groningen)

  • Rossella Sorice

    (Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”-CNR)

  • Tim D. Spector

    (Kings College London)

  • Kari Stefansson

    (deCODE genetics
    Faculty of Medicine, University of Iceland)

  • Michael Stumvoll

    (University of Leipzig, Liebigstr. 18, D-04103 Leipzig, Germany.
    University of Leipzig, IFB AdiposityDiseases)

  • W. H. Wilson Tang

    (Center for Cardiovascular Diagnostics and Prevention, Lerner Research Institute, Cleveland Clinic)

  • Daniela Toniolo

    (San Raffaele Scientific Institute
    Insitute of Molecular Genetics, CNR, 27100 Pavia, Italy.)

  • Anke Tönjes

    (University of Leipzig, Liebigstr. 18, D-04103 Leipzig, Germany.
    University of Leipzig, IFB AdiposityDiseases)

  • Peter M. Visscher

    (Centre for Cognitive Ageing and Cognitive Epidemiology, The University of Edinburgh
    Queensland Institute of Medical Research
    University of Queensland Diamantina Institute, The University of Queensland, Princess Alexandra Hospital
    Queensland Brain Institute, The University of Queensland)

  • Peter Vollenweider

    (Centre Hospitalier Universitaire Vaudois
    University of Lausanne)

  • Nicholas J. Wareham

    (MRC Epidemiology Unit, Institute of Metabolic Science, Addenbrooke’s Hospital)

  • Bruce H. R. Wolffenbuttel

    (University of Groningen, University Medical Center Groningen)

  • Dorret I. Boomsma

    (VU University)

  • Jacques S. Beckmann

    (University of Lausanne
    Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • George V. Dedoussis

    (Nutrition and Dietetics, Harokopio University)

  • Panos Deloukas

    (Wellcome Trust Sanger Institute, Hinxton)

  • Manuel A. Ferreira

    (Queensland Institute of Medical Research)

  • Serena Sanna

    (Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.)

  • Manuela Uda

    (Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, c/o Cittadella Universitaria di Monserrato, Monserrato, Cagliari 09042, Italy.)

  • Andrew A. Hicks

    (Center for Biomedicine, European Academy Bozen/Bolzano (EURAC))

  • Josef Martin Penninger

    (Institute of Molecular Biotechnology of the Austrian Academy of Sciences)

  • Christian Gieger

    (Institute of Genetic Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health)

  • Jaspal S. Kooner

    (Ealing Hospital NHS Trust
    National Heart and Lung Institute, Imperial College London
    Imperial College Healthcare NHS Trust)

  • Willem H. Ouwehand

    (University of Cambridge
    NHS Blood and Transplant
    NIHR Cambridge Biomedical Research Centre
    Wellcome Trust Sanger Institute, Hinxton)

  • Nicole Soranzo

    (Wellcome Trust Sanger Institute, Hinxton)

  • John C. Chambers

    (Imperial College London
    Ealing Hospital NHS Trust
    NIHR Cardiovascular Biomedical Research Unit, Royal Brompton and Harefield NHS Foundation Trust and Imperial College London
    Imperial College Healthcare NHS Trust)

Abstract

Anaemia is a chief determinant of global ill health, contributing to cognitive impairment, growth retardation and impaired physical capacity. To understand further the genetic factors influencing red blood cells, we carried out a genome-wide association study of haemoglobin concentration and related parameters in up to 135,367 individuals. Here we identify 75 independent genetic loci associated with one or more red blood cell phenotypes at P

Suggested Citation

  • Pim van der Harst & Weihua Zhang & Irene Mateo Leach & Augusto Rendon & Niek Verweij & Joban Sehmi & Dirk S. Paul & Ulrich Elling & Hooman Allayee & Xinzhong Li & Aparna Radhakrishnan & Sian-Tsung Tan, 2012. "Seventy-five genetic loci influencing the human red blood cell," Nature, Nature, vol. 492(7429), pages 369-375, December.
  • Handle: RePEc:nat:nature:v:492:y:2012:i:7429:d:10.1038_nature11677
    DOI: 10.1038/nature11677
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