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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G. Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D. Beckmann, Gudmar Thorleifsson, Marco Belfiore, Sonia Bouquillon, Dominique Campion, Nicole de Leeuw, Bert B. A. de Vries, Tõnu Esko, Bridget A. Fernandez, Fernando Fernández-Aranda, José Manuel Fernández-Real, Mònica Gratacòs, Audrey Guilmatre, Juliane Hoyer, Marjo-Riitta Jarvelin, R. Frank Kooy, Ants Kurg, Cédric Le Caignec, Katrin Männik, Orah S. Platt, Damien Sanlaville, Mieke M. Van Haelst, Sergi Villatoro Gomez, Faida Walha, Bai-lin Wu, Yongguo Yu, Azzedine Aboura, Marie-Claude Addor, Yves Alembik, Stylianos E. Antonarakis, Benoît Arveiler, Magalie Barth, Nathalie Bednarek, Frédérique Béna, Sven Bergmann, Mylène Beri, Laura Bernardini, Bettina Blaumeiser, Dominique Bonneau, Armand Bottani, Odile Boute, Han G. Brunner, Dorothée Cailley, Patrick Callier, Jean Chiesa, Jacqueline Chrast, Lachlan Coin, Charles Coutton, Jean-Marie Cuisset, Jean-Christophe Cuvellier, Albert David, Bénédicte de Freminville, Bruno Delobel, Marie-Ange Delrue, Bénédicte Demeer, Dominique Descamps, Gérard Didelot, Klaus Dieterich, Vittoria Disciglio, Martine Doco-Fenzy, Séverine Drunat, Bénédicte Duban-Bedu, Christèle Dubourg, Julia S. El-Sayed Moustafa, Paul Elliott, Brigitte H. W. Faas, Laurence Faivre, Anne Faudet, Florence Fellmann, Alessandra Ferrarini, Richard Fisher, Elisabeth Flori, Lukas Forer, Dominique Gaillard, Marion Gerard, Christian Gieger, Stefania Gimelli, Giorgio Gimelli, Hans J. Grabe, Agnès Guichet, Olivier Guillin, Anna-Liisa Hartikainen, Délphine Heron, Loyse Hippolyte, Muriel Holder, Georg Homuth, Bertrand Isidor, Sylvie Jaillard, Zdenek Jaros, Susana Jiménez-Murcia, Géraldine Joly Helas, Philippe Jonveaux, Satu Kaksonen, Boris Keren, Anita Kloss-Brandstätter, Nine V. A. M. Knoers, David A. Koolen, Peter M. Kroisel, Florian Kronenberg, Audrey Labalme, Emilie Landais, Elisabetta Lapi, Valérie Layet, Solenn Legallic, Bruno Leheup, Barbara Leube, Suzanne Lewis, Josette Lucas, Kay D. MacDermot, Pall Magnusson, Christian Marshall, Michèle Mathieu-Dramard, Mark I. McCarthy, Thomas Meitinger, Maria Antonietta Mencarelli, Giuseppe Merla, Alexandre Moerman, Vincent Mooser, Fanny Morice-Picard, Mafalda Mucciolo, Matthias Nauck, Ndeye Coumba Ndiaye, Ann Nordgren, Laurent Pasquier, Florence Petit, Rolph Pfundt, Ghislaine Plessis, Evica Rajcan-Separovic, Gian Paolo Ramelli, Anita Rauch, Roberto Ravazzolo, Andre Reis, Alessandra Renieri, Cristobal Richart, Janina S. Ried, Claudine Rieubland, Wendy Roberts, Katharina M. Roetzer, Caroline Rooryck, Massimiliano Rossi, Evald Saemundsen, Véronique Satre, Claudia Schurmann, Engilbert Sigurdsson, Dimitri J. Stavropoulos, Hreinn Stefansson, Carola Tengström, Unnur Thorsteinsdóttir, Francisco J. Tinahones, Renaud Touraine, Louis Vallée, Ellen van Binsbergen, Nathalie Van der Aa, Catherine Vincent-Delorme, Sophie Visvikis-Siest, Peter Vollenweider, Henry Völzke, Anneke T. Vulto- van Silfhout, Gérard Waeber, Carina Wallgren-Pettersson, Robert M. Witwicki, Simon Zwolinksi, Joris Andrieux, Xavier Estivill, James F. Gusella, Omar Gustafsson, Andres Metspalu, Stephen W. Scherer, Kari Stefansson, Alexandra I. F. Blakemore, Jacques S. Beckmann () and Philippe Froguel
Additional contact information
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
Danielle Martinet: Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois
Yiping Shen: Laboratory Medicine, Children’s Hospital Boston
Armand Valsesia: 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
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
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
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
Yongguo Yu: Laboratory Medicine, Children’s Hospital Boston
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
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
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
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
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
Julia S. El-Sayed Moustafa: Imperial College London
Paul Elliott: 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
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
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
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
Thomas Meitinger: Institute of Human Genetics,Hemholtz Center Munich, German Research Center for Environmental Health and Institute of Human Genetics, Technical University Munich
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
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
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
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
Andres Metspalu: Institute of Molecular and Cell Biology, 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
Philippe Froguel: Imperial College London

Nature, 2011, vol. 478, issue 7367, 97-102

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.

Date: 2011
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DOI: 10.1038/nature10406

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