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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Author

Listed:
  • Sébastien Jacquemont

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Alexandre Reymond

    (Center for Integrative Genomics, University of Lausanne)

  • Flore Zufferey

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Louise Harewood

    (Center for Integrative Genomics, University of Lausanne)

  • Robin G. Walters

    (Imperial College London)

  • Zoltán Kutalik

    (University of Lausanne
    Swiss Institute of Bioinformatics, University of Lausanne)

  • Danielle Martinet

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Yiping Shen

    (Laboratory Medicine, Children’s Hospital Boston
    Center for Human Genetic Research, Massachusetts General Hospital)

  • Armand Valsesia

    (University of Lausanne
    Swiss Institute of Bioinformatics, University of Lausanne
    Ludwig Institute for Cancer Research, University of Lausanne)

  • Noam D. Beckmann

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Gudmar Thorleifsson

    (deCODE Genetics, Sturlugata 8)

  • Marco Belfiore

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Sonia Bouquillon

    (Laboratoire de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille)

  • Dominique Campion

    (INSERM U614, University of Rouen and Centre Hospitalier du Rouvray)

  • Nicole de Leeuw

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Bert B. A. de Vries

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Tõnu Esko

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

  • Bridget A. Fernandez

    (Discipline of Genetics and Medicine, Memorial University of Newfoundland, St John’s A1B 3V6)

  • Fernando Fernández-Aranda

    (University Hospital of Bellvitge-IDIBELL, Ciber Fisiopatologia Obesidad y Nutrición (CIBEROBN))

  • José Manuel Fernández-Real

    (Endocrinology, and Nutrition, Hospital Universitari de Girona Dr. Josep Trueta, Institut d’Investigació Biomèdica de Girona, Ciber Fisiopatologia Obesidad y Nutrición (CIBEROBN), Instituto Salud Carlos III)

  • Mònica Gratacòs

    (Genes and Disease Program, Center for Genomic Regulation (CRG-UPF), CIBER en Epidemiología y Salud Pública (CIBERESP))

  • Audrey Guilmatre

    (INSERM U614, University of Rouen and Centre Hospitalier du Rouvray)

  • Juliane Hoyer

    (Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg)

  • Marjo-Riitta Jarvelin

    (Imperial College London, School of Public Health
    National Institute for Health and Welfare, Box 310
    Institute of Health Sciences, University of Oulu, and Biocenter Oulu, University of Oulu, Box 5000, 90014 University of Oulu)

  • R. Frank Kooy

    (University and University Hospital Antwerp)

  • Ants Kurg

    (Institute of Molecular and Cell Biology, University of Tartu)

  • Cédric Le Caignec

    (Service de Génétique Médicale, CHU Nantes)

  • Katrin Männik

    (Institute of Molecular and Cell Biology, University of Tartu)

  • Orah S. Platt

    (Laboratory Medicine, Children’s Hospital Boston)

  • Damien Sanlaville

    (Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, CHU de Lyon and Neuroscience Research Center, TIGER team, UCBL1)

  • Mieke M. Van Haelst

    (Imperial College London
    University Medical Center)

  • Sergi Villatoro Gomez

    (Genes and Disease Program, Center for Genomic Regulation (CRG-UPF), CIBER en Epidemiología y Salud Pública (CIBERESP))

  • Faida Walha

    (Center for Integrative Genomics, University of Lausanne)

  • Bai-lin Wu

    (Laboratory Medicine, Children’s Hospital Boston
    Children’s Hospital and Institutes of Biomedical Science, Fudan University)

  • Yongguo Yu

    (Laboratory Medicine, Children’s Hospital Boston
    Shanghai Children’s Medical Center)

  • Azzedine Aboura

    (APHP-Robert DEBRE University Hospital)

  • Marie-Claude Addor

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Yves Alembik

    (Service de Génétique Médicale, CHU Strasbourg, Hôpital de Hautepierre)

  • Stylianos E. Antonarakis

    (Service of Genetic Medicine, University Hospitals of Geneva)

  • Benoît Arveiler

    (Laboratoire Maladies Rares-Génétique et Métabolisme, Université Bordeaux 2
    Service de Génétique Médicale, CHU de Bordeaux)

  • Magalie Barth

    (Service de Génétique, CHU Angers)

  • Nathalie Bednarek

    (Service Pédiatrie, CHU Hôpital Alix de Champagne)

  • Frédérique Béna

    (Service of Genetic Medicine, University Hospitals of Geneva)

  • Sven Bergmann

    (University of Lausanne
    Swiss Institute of Bioinformatics, University of Lausanne)

  • Mylène Beri

    (Laboratoire de génétique, CHU Nancy)

  • Laura Bernardini

    (Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza Hospital)

  • Bettina Blaumeiser

    (University and University Hospital Antwerp)

  • Dominique Bonneau

    (Service de Génétique, CHU Angers)

  • Armand Bottani

    (Service of Genetic Medicine, University Hospitals of Geneva)

  • Odile Boute

    (Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU de Lille)

  • Han G. Brunner

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Dorothée Cailley

    (Service de Génétique Médicale, CHU de Bordeaux)

  • Patrick Callier

    (Laboratoire de Cytogénétique, CHU le Bocage)

  • Jean Chiesa

    (Laboratoire de Cytogénétique, CHU Caremeau)

  • Jacqueline Chrast

    (Center for Integrative Genomics, University of Lausanne)

  • Lachlan Coin

    (Imperial College London)

  • Charles Coutton

    (Laboratoire de Génétique Chromosomique, CHU de Grenoble, BP 217)

  • Jean-Marie Cuisset

    (Service de Neurologie pédiatrique, Hôpital Roger Salengro, CHRU de Lille)

  • Jean-Christophe Cuvellier

    (Service de Neurologie pédiatrique, Hôpital Roger Salengro, CHRU de Lille)

  • Albert David

    (Service de Génétique Médicale, CHU Nantes)

  • Bénédicte de Freminville

    (CHU-Hôpital Nord, Service de Génétique, CHU Saint Etienne)

  • Bruno Delobel

    (Centre de Génétique Chromosomique, Hôpital Saint-Vincent de Paul, GHICL)

  • Marie-Ange Delrue

    (Laboratoire Maladies Rares-Génétique et Métabolisme, Université Bordeaux 2
    Service de Génétique Médicale, CHU de Bordeaux)

  • Bénédicte Demeer

    (Service de Génétique Médicale, CHRU Amiens)

  • Dominique Descamps

    (Centre hospitalier de Béthune)

  • Gérard Didelot

    (Center for Integrative Genomics, University of Lausanne)

  • Klaus Dieterich

    (Service de Génétique Clinique, CHU Grenoble)

  • Vittoria Disciglio

    (Medical Genetics, University of Siena
    UOC Genetica Medica, Azienda Ospedaliera Universitaria Senese)

  • Martine Doco-Fenzy

    (Service de Génétique, HMB, CHU REIMS, IFR 53)

  • Séverine Drunat

    (APHP-Robert DEBRE University Hospital)

  • Bénédicte Duban-Bedu

    (Centre de Génétique Chromosomique, Hôpital Saint-Vincent de Paul, GHICL)

  • Christèle Dubourg

    (UMR 6061 CNRS, IFR 140 GFAS, Université de Rennes 1
    Service de Génétique Moléculaire, CHU)

  • Julia S. El-Sayed Moustafa

    (Imperial College London)

  • Paul Elliott

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

  • Brigitte H. W. Faas

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Laurence Faivre

    (Centre de Génétique, CHU Dijon)

  • Anne Faudet

    (APHP-GH Pitié-Salpêtrière)

  • Florence Fellmann

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Alessandra Ferrarini

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Richard Fisher

    (Institute of Human Genetics, International Centre for Life)

  • Elisabeth Flori

    (Service de Génétique Médicale, CHU Strasbourg, Hôpital de Hautepierre)

  • Lukas Forer

    (Molecular and Clinical Pharmacology, Innsbruck Medical University)

  • Dominique Gaillard

    (Service de Génétique, HMB, CHU REIMS, IFR 53)

  • Marion Gerard

    (APHP-Robert DEBRE University Hospital)

  • Christian Gieger

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

  • Stefania Gimelli

    (Service of Genetic Medicine, University Hospitals of Geneva)

  • Giorgio Gimelli

    (Laboratorio di Citogenetica, G. Gaslini Institute)

  • Hans J. Grabe

    (Ernst-Moritz-Arndt University Greifswald)

  • Agnès Guichet

    (Service de Génétique, CHU Angers)

  • Olivier Guillin

    (INSERM U614, University of Rouen and Centre Hospitalier du Rouvray)

  • Anna-Liisa Hartikainen

    (Institute of Clinical Medicine, University of Oulu)

  • Délphine Heron

    (Embryologie AP-HP, Université Pierre et Marie Curie
    Hôpital Pitié-Salpêtriére)

  • Loyse Hippolyte

    (Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois)

  • Muriel Holder

    (Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU de Lille)

  • Georg Homuth

    (Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt University Greifswald)

  • Bertrand Isidor

    (Service de Génétique Médicale, CHU Nantes)

  • Sylvie Jaillard

    (UMR 6061 CNRS, IFR 140 GFAS, Université de Rennes 1
    Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Rennes)

  • Zdenek Jaros

    (Landesklinikum Waldviertel Zwettl)

  • Susana Jiménez-Murcia

    (University Hospital of Bellvitge-IDIBELL, Ciber Fisiopatologia Obesidad y Nutrición (CIBEROBN))

  • Géraldine Joly Helas

    (CHU Rouen)

  • Philippe Jonveaux

    (Laboratoire de génétique, CHU Nancy)

  • Satu Kaksonen

    (The Habilitation Unit of Folkhalsan, Folkhalsan)

  • Boris Keren

    (APHP-GH Pitié-Salpêtrière)

  • Anita Kloss-Brandstätter

    (Molecular and Clinical Pharmacology, Innsbruck Medical University)

  • Nine V. A. M. Knoers

    (University Medical Center
    University Medical Center)

  • David A. Koolen

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Peter M. Kroisel

    (Institute of Human Genetics, Medical University of Graz)

  • Florian Kronenberg

    (Molecular and Clinical Pharmacology, Innsbruck Medical University)

  • Audrey Labalme

    (Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, CHU de Lyon and Neuroscience Research Center, TIGER team, UCBL1)

  • Emilie Landais

    (Service de Génétique, HMB, CHU REIMS, IFR 53)

  • Elisabetta Lapi

    (Medical Genetics Unit, Children’s Hospital Anna Meyer)

  • Valérie Layet

    (Unité de Génétique, Groupe Hospitalier du Havre)

  • Solenn Legallic

    (INSERM U614, University of Rouen and Centre Hospitalier du Rouvray)

  • Bruno Leheup

    (Service de Médecine Infantile III et Génétique Clinique, CHU-Nancy et PRES de l'Université de Lorraine UHP Nancy)

  • Barbara Leube

    (Institute of Human Genetics and Anthropology, Heinrich-Heine University Hospital Duesseldorf)

  • Suzanne Lewis

    (The University of British Columbia and Child and Family Research Institute)

  • Josette Lucas

    (Laboratoire de Cytogénétique et Biologie Cellulaire, CHU Rennes)

  • Kay D. MacDermot

    (North West Thames Regional Genetics Service, Northwick Park & St Marks Hospital)

  • Pall Magnusson

    (Child and Adolescent Psychiatry, Landspitali University Hospital)

  • Christian Marshall

    (The Centre for Applied Genomics, Hospital for Sick Children)

  • Michèle Mathieu-Dramard

    (Service de Génétique Médicale, CHRU Amiens)

  • Mark I. McCarthy

    (Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington
    Wellcome Trust Centre for Human Genetics, University of Oxford, University of Oxford, Roosevelt Drive
    Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington)

  • Thomas Meitinger

    (Institute of Human Genetics,Hemholtz Center Munich, German Research Center for Environmental Health and Institute of Human Genetics, Technical University Munich
    Institute of Human Genetics, Technische Universität München, Klinikum rechts der Isar)

  • Maria Antonietta Mencarelli

    (Medical Genetics, University of Siena)

  • Giuseppe Merla

    (Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza Hospital)

  • Alexandre Moerman

    (Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU de Lille)

  • Vincent Mooser

    (Genetics, GlaxoSmithKline R&D)

  • Fanny Morice-Picard

    (Laboratoire Maladies Rares-Génétique et Métabolisme, Université Bordeaux 2
    Service de Génétique Médicale, CHU de Bordeaux)

  • Mafalda Mucciolo

    (Medical Genetics, University of Siena)

  • Matthias Nauck

    (Institute of Clinical Chemistry and Laboratory Medicine, Ernst-Moritz-Arndt University Greifswald)

  • Ndeye Coumba Ndiaye

    (Cardiovascular Genetics Research Unit, EA4373, Université Henri Poincaré)

  • Ann Nordgren

    (Karolinska Institutet)

  • Laurent Pasquier

    (Service de Génétique-CLAD Ouest)

  • Florence Petit

    (Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU de Lille)

  • Rolph Pfundt

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Ghislaine Plessis

    (Service de Génétique, CHU Clémenceau)

  • Evica Rajcan-Separovic

    (University of British Columbia and Child and Family Research Institute)

  • Gian Paolo Ramelli

    (Ospedale San Giovanni)

  • Anita Rauch

    (Institute of Medical Genetics, University of Zurich)

  • Roberto Ravazzolo

    (G. Gaslini Institute, University of Genova)

  • Andre Reis

    (Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg)

  • Alessandra Renieri

    (Medical Genetics, University of Siena)

  • Cristobal Richart

    (University Hospital Juan XXIII, Universitat Rovira y Virgili, Ciber Fisiopatologia Obesidad y Nutrición (CIBEROBN), Instituto Salud Carlos III)

  • Janina S. Ried

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

  • Claudine Rieubland

    (Inselspital, University of Bern)

  • Wendy Roberts

    (The Autism Research Unit, Hospital for Sick Children)

  • Katharina M. Roetzer

    (Institute of Human Genetics, Medical University of Graz)

  • Caroline Rooryck

    (Laboratoire Maladies Rares-Génétique et Métabolisme, Université Bordeaux 2
    Service de Génétique Médicale, CHU de Bordeaux)

  • Massimiliano Rossi

    (Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, CHU de Lyon and Neuroscience Research Center, TIGER team, UCBL1)

  • Evald Saemundsen

    (State Diagnostic and Counseling Center)

  • Véronique Satre

    (Laboratoire de Génétique Chromosomique, CHU de Grenoble, BP 217)

  • Claudia Schurmann

    (Interfaculty Institute for Genetics and Functional Genomics, Ernst-Moritz-Arndt University Greifswald)

  • Engilbert Sigurdsson

    (University of Iceland and Landspitali University Hospital)

  • Dimitri J. Stavropoulos

    (Hospital for Sick Children)

  • Hreinn Stefansson

    (deCODE Genetics, Sturlugata 8)

  • Carola Tengström

    (Genetic Services, Rinnekoti Research Foundation, Kumputie 1)

  • Unnur Thorsteinsdóttir

    (deCODE Genetics, Sturlugata 8
    Faculty of Medicine, University of Iceland)

  • Francisco J. Tinahones

    (Clinic Hospital of Virgen de la Victoria, Ciber Fisiopatologia Obesidad y Nutrición (CIBEROBN), Instituto Salud Carlos III)

  • Renaud Touraine

    (CHU-Hôpital Nord, Service de Génétique, CHU Saint Etienne)

  • Louis Vallée

    (Service de Neurologie pédiatrique, Hôpital Roger Salengro, CHRU de Lille)

  • Ellen van Binsbergen

    (University Medical Center)

  • Nathalie Van der Aa

    (University and University Hospital Antwerp)

  • Catherine Vincent-Delorme

    (Centre de Maladies Rares, Anomalies du Developpement Nord de France, CH Arras-CHRU Lille)

  • Sophie Visvikis-Siest

    (Cardiovascular Genetics Research Unit, EA4373, Université Henri Poincaré)

  • Peter Vollenweider

    (Centre Hospitalier Universitaire Vaudois)

  • Henry Völzke

    (Institute for Community Medicine, Ernst-Moritz-Arndt University Greifswald)

  • Anneke T. Vulto-van Silfhout

    (Nijmegen Centre for Molecular Life Sciences and Institute for Genetic and Metabolic Disorders, Radboud University Nijmegen Medical Centre)

  • Gérard Waeber

    (Centre Hospitalier Universitaire Vaudois)

  • Carina Wallgren-Pettersson

    (Haartman Institute, University of Helsinki and Folkhälsan Institute of Genetics)

  • Robert M. Witwicki

    (Center for Integrative Genomics, University of Lausanne)

  • Simon Zwolinksi

    (Institute of Human Genetics, International Centre for Life)

  • Joris Andrieux

    (Laboratoire de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille)

  • Xavier Estivill

    (Genes and Disease Program, Center for Genomic Regulation (CRG-UPF), CIBER en Epidemiología y Salud Pública (CIBERESP))

  • James F. Gusella

    (Center for Human Genetic Research, Massachusetts General Hospital)

  • Omar Gustafsson

    (deCODE Genetics, Sturlugata 8
    Oslo University Hospital)

  • Andres Metspalu

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

  • Stephen W. Scherer

    (The Hospital for Sick Children, University of Toronto)

  • Kari Stefansson

    (deCODE Genetics, Sturlugata 8)

  • Alexandra I. F. Blakemore

    (Imperial College London)

  • Jacques S. Beckmann

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

  • Philippe Froguel

    (Imperial College London
    CNRS 8090-Institute of Biology, Pasteur Institute)

Abstract

Genomic balance: underweight as a mirror image of obesity Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated with a number of genetic variants, little is known about the genetic basis of underweight. A large-scale screen of data from 28 cytogenetic centres in Europe and North America now shows that being underweight is frequently associated with duplication of a short region on chromosome 16. Deletion of this same chromosomal region has previously been associated with obesity. The observed associated phenotypes are opposites, or mirrors, of those reported in carriers of deletions at this locus, and correlate with changes in transcript levels for genes within the duplication but not within the adjacent regions. The suggestion is that severe obesity and being underweight could have mirror etiologies, possibly through contrasting effects on energy balance.

Suggested Citation

  • Sébastien Jacquemont & Alexandre Reymond & Flore Zufferey & Louise Harewood & Robin G. Walters & Zoltán Kutalik & Danielle Martinet & Yiping Shen & Armand Valsesia & Noam D. Beckmann & Gudmar Thorleif, 2011. "Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus," Nature, Nature, vol. 478(7367), pages 97-102, October.
    • Handle: RePEc:nat:nature:v:478:y:2011:i:7367:d:10.1038_nature10406
    DOI: 10.1038/nature10406
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