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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study
Journal of the American Academy of Child and Adolescent Psychiatry, Volume 53, No. 8, Year 2014
Notification
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Description
Objective Obsessive-compulsive disorder (OCD) and Tourette syndrome (TS) are heritable neurodevelopmental disorders with a partially shared genetic etiology. This study represents the first genome-wide investigation of large (>500 kb), rare (<1%) copy number variants (CNVs) in OCD and the largest genome-wide CNV analysis in TS to date. Method The primary analyses used a cross-disorder design for 2,699 case patients (1,613 ascertained for OCD, 1,086 ascertained for TS) and 1,789 controls. Parental data facilitated a de novo analysis in 348 OCD trios. Results Although no global CNV burden was detected in the cross-disorder analysis or in secondary, disease-specific analyses, there was a 3.3-fold increased burden of large deletions previously associated with other neurodevelopmental disorders (p =.09). Half of these neurodevelopmental deletions were located in a single locus, 16p13.11 (5 case patient deletions: 0 control deletions, p =.08 in the current study, p =.025 compared to published controls). Three 16p13.11 deletions were confirmed de novo, providing further support for the etiological significance of this region. The overall OCD de novo rate was 1.4%, which is intermediate between published rates in controls (0.7%) and in individuals with autism or schizophrenia (2-4%). Conclusion Several converging lines of evidence implicate 16p13.11 deletions in OCD, with weaker evidence for a role in TS. The trend toward increased overall neurodevelopmental CNV burden in TS and OCD suggests that deletions previously associated with other neurodevelopmental disorders may also contribute to these phenotypes. © 2014 American Academy of Child and Adolescent Psychiatry.
Authors & Co-Authors
McGrath, Lauren M.
United States, Boston
Massachusetts General Hospital
United States, Washington, D.c.
American University
United States, Cambridge
Broad Institute
Yu, Dongmei
United States, Boston
Massachusetts General Hospital
United States, Cambridge
Broad Institute
Marshall, Christian R.
Canada, Toronto
Hospital for Sick Children University of Toronto
Davis, Lea Karatheodoris
United States, Chicago
The University of Chicago
Thiruvahindrapuram, Bhooma
Canada, Toronto
Hospital for Sick Children University of Toronto
Li, Bingbin
Canada, Toronto
Hospital for Sick Children University of Toronto
Cappi, Carolina
Brazil, Sao Paulo
Universidade de São Paulo
Gerber, Gloria
United States, Boston
Massachusetts General Hospital
Wolf, Aaron
United States, Boston
Massachusetts General Hospital
Schroeder, Frederick A.
United States, Boston
Massachusetts General Hospital
Osiecki, Lisa
United States, Boston
Massachusetts General Hospital
Ó'Dúshláine, Colm T.
United States, Cambridge
Broad Institute
Kirby, Andrew
United States, Boston
Massachusetts General Hospital
Illmann, C.
United States, Boston
Massachusetts General Hospital
Haddad, Stephen
United States, Boston
Massachusetts General Hospital
Gallagher, Patience
United States, Boston
Massachusetts General Hospital
Fagerness, Jesen A.
United States, Boston
Massachusetts General Hospital
Barr, C. L.
Canada, Toronto
Hospital for Sick Children University of Toronto
Canada, Toronto
Krembil Research Institute
Bellodi, Laura
Italy, Milan
Università Vita-salute San Raffaele
Benarroch, Fortu
Israel, Jerusalem
Hadassah University Medical Centre
Bienvenu, O. Joseph
United States, Baltimore
Johns Hopkins School of Medicine
Black, Donald W.
United States, Iowa City
University of Iowa Carver College of Medicine
Bloch, Michael Howard
United States, New Haven
Yale School of Medicine
Bruun, Ruth D.
United States, New Hyde Park
Long Island Jewish Medical Center
United States, New York
Nyu Langone Health
Budman, Cathy L.
United States, New Hyde Park
Long Island Jewish Medical Center
United States, Hempstead
Donald and Barbara Zucker School of Medicine at Hofstra/northwell
Camarena, Beatriz
Mexico, Mexico
Instituto Nacional de Psiquiatría Ramon de la Fuente
Cath, Daniëlle C.
Netherlands, Utrecht
Universiteit Utrecht
Cavallini, Maria C.
Italy, Milan
Irccs Ospedale San Raffaele
Chouinard, Sylvain
Canada, Montreal
University of Montreal
Coric, Vladimir
United States, New Haven
Yale School of Medicine
Cullen, Bernadette
United States, Baltimore
Johns Hopkins School of Medicine
Delorme, Richard
France, Paris
Hôpital Robert-debré Ap-hp
France, Paris
Institut Pasteur, Paris
Denys, Damiaan A.J.P.
Netherlands, Amsterdam
Nederlands Herseninstituut
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Derks, Eske M.
Netherlands, Amsterdam
Amsterdam Umc - University of Amsterdam
Dion, Y.
Canada, Montreal
University of Montreal
Rosário, Maria Conceição Do
Brazil, Sao Paulo
Universidade Federal de São Paulo
Eapen, Valsamma N.
Australia, Sydney
Unsw Sydney
Evans, Patrick
United States, Chicago
The University of Chicago
Falkai, Peter
Germany, Munich
Ludwig-maximilians-universität München
Fernandez, Thomas V.
United States, New Haven
Yale School of Medicine
Garrido, Helena
Costa Rica, San Jose
Hospital Nacional de Niños Dr. Carlos Sáenz Herrera
Costa Rica, San Jose
Clinica Herrera Amighetti
Geller, Daniel
United States, Boston
Massachusetts General Hospital
Grabe, Hans Jörgen
Germany, Greifswald
Universitätsmedizin Greifswald
Grados, M.
United States, Baltimore
Johns Hopkins School of Medicine
Greenberg, Benjamin D.
United States, Providence
The Warren Alpert Medical School
Gross-Tsur, Varda
Israel, Jerusalem
Shaare Zedek Medical Center
Grünblatt, Edna
Switzerland, Zurich
Universität Zürich
Heiman, Gary
United States, New Brunswick
Rutgers University–new Brunswick
Joanna Hemmings, Sîan Megan
South Africa, Stellenbosch
Stellenbosch University
Herrera, Luis D.
Costa Rica, San Jose
Hospital Nacional de Niños Dr. Carlos Sáenz Herrera
Hounie, Ana G.
Brazil, Sao Paulo
Universidade Federal de São Paulo
Jankovic, Joseph J.
United States, Houston
Baylor College of Medicine
Kennedy, James Lowery
Canada, Toronto
Centre for Addiction and Mental Health
King, Robert Alan
United States, New Haven
Yale School of Medicine
Kurlan, Roger M.
United States, Summit
Atlantic Neuroscience Institute
Lanzagorta, Nuria
Mexico
Grupo Médico Carracci
Leboyer, Marion
France, Paris
Hôpital Robert-debré Ap-hp
France, Creteil
Institut Mondor de Recherche Biomédicale
Leckman, James F.
United States, New Haven
Yale School of Medicine
Lennertz, Leonhard
Germany, Bonn
Universität Bonn
Lochner, Christine
South Africa, Stellenbosch
Stellenbosch University
Lowe, Thomas L.
United States, San Francisco
Ucsf School of Medicine
Lyon, Gholson J.
United States, Cold Spring Harbor
Cold Spring Harbor Laboratory
MacCiardi, Fabio
United States, Irvine
University of California, Irvine
Maier, Wolfgang
Germany, Bonn
Universität Bonn
McCracken, James T.
United States, Los Angeles
University of California, Los Angeles
McMahon, W.
United States, Salt Lake City
The University of Utah
Murphy, Dennis L.
United States, Bethesda
Instituto Nacional de la Salud Mental
Naarden, Allan L.
United States, Dallas
Medical City Dallas Hospital
Neale, Benjamin M.
United States, Boston
Massachusetts General Hospital
United States, Cambridge
Broad Institute
Nurmi, Erika L.
United States, Los Angeles
University of California, Los Angeles
Pakstis, Andrew J.
United States, New Haven
Yale School of Medicine
Pato, Michèle T.
United States, Los Angeles
Zilkha Neurogenetic Institute
Pato, Carlos N.
United States, Los Angeles
Zilkha Neurogenetic Institute
Piacentini, John C.
United States, Los Angeles
University of California, Los Angeles
Pittenger, Christopher John
United States, New Haven
Yale School of Medicine
Pollak, Yehuda
Israel, Jerusalem
Shaare Zedek Medical Center
Reus, Victor I.
United States, San Francisco
Ucsf School of Medicine
Richter, Margaret A.
Canada, Toronto
Hospital for Sick Children University of Toronto
Canada, Toronto
Sunnybrook Health Sciences Centre
Riddle, Mark
United States, Baltimore
Johns Hopkins School of Medicine
Robertson, Mary May
United Kingdom, London
University College London
Rosenberg, David
United States, Detroit
Wayne State University
Rouleau, Guy Armand
Canada, Montreal
Institut-hôpital Neurologique de Montréal
Ruhrmann, Stephan
Germany, Koln
Universität zu Köln
Sampaio, Aline S.
Brazil, Sao Paulo
Universidade Federal de São Paulo
Brazil, Salvador
Universidade Federal da Bahia
Samuels, Jack
United States, Baltimore
Johns Hopkins School of Medicine
Sandor, P.
Canada, Toronto
Hospital for Sick Children University of Toronto
Canada, Toronto
Krembil Research Institute
Sheppard, Brooke
United States, San Francisco
Ucsf School of Medicine
Singer, H. S.
United States, Baltimore
Johns Hopkins School of Medicine
Smit, Johannes Hendrikus
Netherlands, Amsterdam
Vrije Universiteit Amsterdam
Netherlands, Amsterdam
Amsterdam Umc - Vrije Universiteit Amsterdam
Netherlands, Rotterdam
Erasmus Mc
Stein, Dan J.
South Africa, Cape Town
University of Cape Town
Tischfield, Jay A.
United States, New Brunswick
Rutgers University–new Brunswick
Vallada, Homero
Brazil, Sao Paulo
Universidade de São Paulo
Veenstra-Vanderweele, Jeremy
United States, Nashville
Vanderbilt University
Walitza, Susanne
Switzerland, Zurich
Universität Zürich
Germany, Wurzburg
Julius-maximilians-universität Würzburg
Wang, Ying
United States, Baltimore
Johns Hopkins School of Medicine
Wendland, J. R.
United States, Bethesda
Instituto Nacional de la Salud Mental
Shugart, Yin Yao
United States, Bethesda
Instituto Nacional de la Salud Mental
Miguel, Eurípedes Constantino
Brazil, Sao Paulo
Universidade de São Paulo
Nicolini, Humberto
Mexico
Grupo Médico Carracci
Oostra, Ben A.
Netherlands, Rotterdam
Erasmus Mc
Statistics
Citations: 113
Authors: 100
Affiliations: 60
Identifiers
Doi:
10.1016/j.jaac.2014.04.022
ISSN:
08908567
e-ISSN:
15275418
Research Areas
Disability
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Mental Health