Mapping autism risk loci using genetic linkage and chromosomal rearrangements (original) (raw)
Accession codes
Accessions
Gene Expression Omnibus
Change history
26 September 2007
In the version of this article initially published, Kacie J. Meyer (University of Iowa, Iowa City) was inadvertently omitted from the author list, and the names of three authors (Frederieke Koop, Marjolein Langemeijer and Channa Hijmans) were misspelled. There were also minor errors in the abstract (“1,168 families” should read “1,181 families”) and in the final paragraph of the Discussion (“11q13–12” should read “11p13–12”). These errors have been corrected in the HTML and PDF versions of the article.
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Acknowledgements
The authors are indebted to the participating families for their contribution of time and effort in support of this study. We gratefully acknowledge Autism Speaks, formerly the National Alliance for Autism Research, for financial support for data pooling, SNP genotyping and data analysis.
The Autism Genetics Cooperative thanks Assistance Publique-Hôpitaux de Paris, Canadian Institutes for Health Research (CIHR grant 11350 to P.S.), Catherine and Maxwell Meighan Foundation, Fondation de France, Fondation France Télécom, Fondation pour la Recherche Médicale, Genome Canada/Ontario Genomics Institute, The Hospital for Sick Children Foundation, Howard Hughes Medical Institute, INSERM, McLaughlin Centre for Molecular Medicine, National Institute of Child Health and Human Development, National Institute of Mental Health (MH066673 to J.D.B.; MH55135 to S.E.F.; MH52708 to N. Risch (University of California, San Francisco); MH061009 to J.S.S.), National Institute of Neurological Disorders and Stroke (NS042165 to J.H.; NS026630 and NS036738 to M.A.P.-V.; NS049261 to J.S.S.; NS043550 to T.H.W.), Swedish Science Council, Seaver Autism Research Foundation and The Centre for Applied Genomics (Toronto). S.W.S. is an Investigator of the CIHR and an HHMI International Scholar.
The Autism Genetic Resource Exchange Consortium gratefully acknowledges the resources provided by the participating families. The Autism Genetic Resource Exchange is a program of Cure Autism Now and is supported, in part, by the National Institute of Mental Health (MH64547 to D.H.G.).
The Collaborative Programs of Excellence thank the National Center for Research Resources (M01-RR00064), National Institute of Child Health and Human Development (U19HD34565 G.D. and G.S.), NIMH (MH057881), NINDS (5 U19 HD035476 to W.M.McM.) and the Utah Autism Foundation.
The International Molecular Genetic Study of Autism Consortium thanks the UK Medical Research Council, Wellcome Trust, BIOMED 2 (CT-97-2759), EC Fifth Framework (QLG2-CT-1999-0094), Telethon-Italy (GGP030227), Janus Korczak Foundation, Deutsche Forschungsgemeinschaft, Fondation France Telecom, Conseil Regional Midi-Pyrenees, Danish Medical Research Council, Sofiefonden, Beatrice Surovell Haskells Fond for Child Mental Health Research of Copenhagen, Danish Natural Science Research Council (9802210) and the US National Institutes of Health (U19 HD35482, MO1 RR06022, K05 MH01196, K02 MH01389). A.J.B. is the Cheryl and Reece Scott Professor of Psychiatry. A.P.M. is a Wellcome Trust Principal Research Fellow.
Requests for data or methods should be addressed to B.D. (devlinbj@upmc.edu) or S.W.S. (steve@genet.sickkids.on.ca).
Author information
Author notes
- Peter Szatmari, Andrew D Paterson, Stephen W Scherer, Veronica J Vieland, Margaret A Pericak-Vance, Catalina Betancur, Joseph D Buxbaum, Joachim Hallmayer, James S Sutcliffe, Jonathan L Haines, Joseph Piven, Thomas H Wassink, Daniel H Geschwind, Rita M Cantor, Stan Nelson, Geraldine Dawson, Bernie Devlin, William M McMahon, Gerard D Schellenberg, Ellen M Wijsman, Anthony J Bailey, Anthony P Monaco and Edwin H Cook: These authors contributed equally to this work.
Authors and Affiliations
- Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, L8N 3Z5, Ontario, Canada
Peter Szatmari, Ann P Thompson & Ping Guo Tepper - The Centre for Applied Genomics and Program in Genetics and Genome Biology, The Hospital for Sick Children and University of Toronto, Toronto, M5G 1X8, Ontario, Canada
Andrew D Paterson, Xiao-Qing Liu, Jennifer L Skaug, Lars Feuk, Cheng Qian, Christian R Marshall & Stephen W Scherer - Department of Pediatrics, McMaster University, Hamilton, L8N 3Z5, Ontario, Canada
Lonnie Zwaigenbaum - Autism Research Unit, The Hospital for Sick Children, Toronto, M5G 1X8, Ontario, Canada
Wendy Roberts, Jessica Brian & Lili Senman - Clarke Institute and Department of Psychiatry, Centre for Addiction and Mental Health, University of Toronto, Toronto, M5G 1X8, Ontario, Canada
John B Vincent - Departments of Pediatrics and Psychology, Izaak Walton Killam Health Centre – Dalhousie University, Halifax, B3K 6R8, Nova Scotia, Canada
Susan E Bryson - Department of Neural and Behavioral Sciences, The Pennsylvania State University College of Medicine, Hershey, 17033, Pennsylvania, USA
Marshall B Jones - Columbus Children's Research Institute, Center for Quantitative and Computational Biology, Columbus, 43205, Ohio, USA
Veronica J Vieland, Christopher Bartlett & La Vonne Mangin - Department of Computer Science, University of Iowa, Iowa City, 52242, Iowa, USA
Rhinda Goedken & Alberto Segre - Miami Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33101, Florida, USA
Margaret A Pericak-Vance, Michael L Cuccaro & John R Gilbert - W.S. Hall Psychiatric Institute, University of South Carolina, Columbia, 29208, South Carolina, USA
Harry H Wright & Ruth K Abramson - INSERM U513, Université Paris XII, Créteil, 94000, France
Catalina Betancur & Marion Leboyer - Human Genetics and Cognitive Functions, Institut Pasteur, Paris, 75015, France
Thomas Bourgeron - Department of Child and Adolescent Psychiatry, Goteborg University, Goteborg, 41119, Sweden
Christopher Gillberg - Department of Psychiatry, Groupe hospitalier Henri Mondor-Albert Chenevier, AP-HP, Créteil, 94000, France
Marion Leboyer - Department of Psychiatry, Seaver Autism Research Center and the Greater New York Autism Research Center for Excellence, Mount Sinai School of Medicine, New York, 10029, New York, USA
Joseph D Buxbaum, Kenneth L Davis, Eric Hollander & Jeremy M Silverman - Department of Psychiatry, Stanford University, Stanford, 94304, California, USA
Joachim Hallmayer & Linda Lotspeich - Center for Molecular Neuroscience, Vanderbilt University, Nashville, 37232, Tennessee, USA
James S Sutcliffe - Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, 37232, USA
James S Sutcliffe & Jonathan L Haines - Department of Psychiatry, Johns Hopkins University, Baltimore, 21287, Maryland, USA
Susan E Folstein - University of North Carolina, Chapel Hill, 27599, North Carolina, USA
Joseph Piven - University of Iowa, Iowa City, 52242, Iowa, USA
Thomas H Wassink, Kacie J Meyer & Val Sheffield - Department of Neurology, University of California - Los Angeles (UCLA) School of Medicine, Los Angeles, 90095, California, USA
Daniel H Geschwind - University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
Maja Bucan - New York State Institute for Basic Research in Developmental Disabilities, Staten Island, 10314, New York, USA
W Ted Brown - Department of Human Genetics, UCLA School of Medicine, Los Angeles, 90095, California, USA
Rita M Cantor & Stan Nelson - Washington University School of Medicine, St. Louis, Missouri, USA
John N Constantino - University of Chicago, Chicago, 60637, Illinois, USA
T Conrad Gilliam - Harvard Medical School, Boston, 02115, Massachusetts, USA
Martha Herbert - Cure Autism Now, Los Angeles, 90036, California, USA
Clara LaJonchere & Janet Miller - Emory University, Atlanta, 30322, Georgia, USA
David H Ledbetter & Christa Lese-Martin - George Washington University, Washington, 20052, D.C., USA
Carol A Samango-Sprouse - UCLA, Los Angeles, 90095, California, USA
Sarah Spence - Yale University Child Study Center, New Haven, 06520, Connecticut, USA
Matthew State & Fred Volkmar - Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
Rudolph E Tanzi - Department of Psychiatry, University of Utah, Salt Lake City, 84132, USA
Hilary Coon & William M McMahon - Department of Psychology and the Center on Human Development and Disability, University of Washington, Seattle, 98195, Washington, USA
Geraldine Dawson & Jeff Munson - Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, 98195, Washington, USA
Geraldine Dawson & Annette Estes - Department of Psychiatry, University of Pittsburgh, Pittsburgh, 15213, Pennsylvania, USA
Bernie Devlin, Lambertus Klei & Nancy Minshew - Department of Pediatrics, University of California, Irvine, California 92697, USA.,
Pamela Flodman, Moyra Smith & M Anne Spence - Geriatrics Research Education and Clinical Center, Puget Sound Veterans Affairs Medical Center, Seattle, 98108, Washington, USA
Elena Korvatska, Gerard D Schellenberg & Chang-En Yu - Department of Medicine, Gerontology and Geriatric Medicine, University of Washington, Seattle, 98104, Washington, USA
Elena Korvatska, Gerard D Schellenberg & Chang-En Yu - Department of OB/GYN, University of Rochester Medical Center, Rochester, 14642, New York, USA
Patricia M Rodier & Chris Stodgell - Departments of Neurology and Pharmacology, University of Washington, Seattle, 98195, Washington, USA
Gerard D Schellenberg - Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, 98195, Washington, USA
Ellen M Wijsman - Department of Biostatistics, University of Washington, Seattle, 98195, Washington, USA
Ellen M Wijsman - Université de Toulouse Le Mirail, Centre d'Etudes et de Recherches en Psychopathologie (CERPP), Toulouse, 31058, France
Bernadette Rogé, Carine Mantoulan & Kerstin Wittemeyer - Division of Molecular Genome Analysis, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, D-69120, Germany
Annemarie Poustka, Bärbel Felder, Sabine M Klauck & Claudia Schuster - J W Goethe Universität Frankfurt, Klinik für Psychiatrie und Psychotherapie des Kindes- und Jugendalters, Frankfurt, D-60528, Germany
Fritz Poustka, Sven Bölte, Sabine Feineis-Matthews, Evelyn Herbrecht & Gabi Schmötzer - Department of Child Psychiatry, National and Kapodistrian University of Athens, “Agia Sophia” Children's Hospital, Athens, 115 27, Greece
John Tsiantis & Katerina Papanikolaou - Department of Biology, University of Bologna, Bologna, 40126, Italy
Elena Maestrini, Elena Bacchelli, Francesca Blasi, Simona Carone & Claudio Toma - Department of Child and Adolescent Psychiatry, University Medical Center, Utrecht, GA Utrecht, 3508, The Netherlands
Herman Van Engeland, Maretha de Jonge, Chantal Kemner, Frederieke Koop, Marjolein Langemeijer, Channa Hijmans & Wouter G Staal - Guy's Hospital, Newcomen Centre, London, SE1 9RT, UK
Gillian Baird - Department of Child and Adolescent Psychiatry, Institute of Psychiatry, London, UK
Patrick F Bolton - Institute of Psychiatry, Social, Genetic and Developmental Psychiatry Centre (SGDP), London, SE5 8AF, UK
Michael L Rutter - University of Cambridge Clinical School, Cambridge, CB2 2AH, UK
Emma Weisblatt - University of Manchester Department of Child Psychiatry, Booth Hall Children's Hospital, Manchester, M9 7AA, UK
Jonathan Green, Catherine Aldred & Julie-Anne Wilkinson - University of Manchester School of Epidemiology and Health Science, Manchester, M13 9P, UK
Andrew Pickles - University of Newcastle, Child and Adolescent Mental Health, Sir James Spence Institute, Newcastle upon Tyne, NE1 4LP, UK
Ann Le Couteur, Tom Berney & Helen McConachie - University of Oxford Department of Psychiatry, Oxford, OX3 7LQ, UK
Anthony J Bailey, Kostas Francis, Gemma Honeyman, Aislinn Hutchinson, Jeremy R Parr & Simon Wallace - Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK
Anthony P Monaco, Gabrielle Barnby, Kazuhiro Kobayashi, Janine A Lamb, Ines Sousa & Nuala Sykes - Department of Psychiatry, Institute for Juvenile Research, University of Illinois at Chicago, Chicago, 60608, Illinois, USA
Edwin H Cook, Stephen J Guter, Bennett L Leventhal & Jeff Salt - University of Michigan Autism and Communicative Disorders Center (UMACC), Ann Arbor, 48109, Michigan, USA
Catherine Lord, Christina Corsello & Vanessa Hus - University of Pittsburgh Department of Human Genetics, Pittsburgh, 15213, Pennsylvania, USA
Daniel E Weeks - Service de pédiatrie et génétique médicale, CHU de Toulouse, Toulouse, France
Maïté Tauber - Montreal Children's Hospital, McGill University, Montreal, Canada
Eric Fombonne - Autism Speaks, 2 Park Avenue, New York, 10016, New York, USA
Andy Shih
Consortia
The Autism Genome Project Consortium
- Peter Szatmari
- , Andrew D Paterson
- , Lonnie Zwaigenbaum
- , Wendy Roberts
- , Jessica Brian
- , Xiao-Qing Liu
- , John B Vincent
- , Jennifer L Skaug
- , Ann P Thompson
- , Lili Senman
- , Lars Feuk
- , Cheng Qian
- , Susan E Bryson
- , Marshall B Jones
- , Christian R Marshall
- , Stephen W Scherer
- , Veronica J Vieland
- , Christopher Bartlett
- , La Vonne Mangin
- , Rhinda Goedken
- , Alberto Segre
- , Margaret A Pericak-Vance
- , Michael L Cuccaro
- , John R Gilbert
- , Harry H Wright
- , Ruth K Abramson
- , Catalina Betancur
- , Thomas Bourgeron
- , Christopher Gillberg
- , Marion Leboyer
- , Joseph D Buxbaum
- , Kenneth L Davis
- , Eric Hollander
- , Jeremy M Silverman
- , Joachim Hallmayer
- , Linda Lotspeich
- , James S Sutcliffe
- , Jonathan L Haines
- , Susan E Folstein
- , Joseph Piven
- , Thomas H Wassink
- , Kacie J Meyer
- , Val Sheffield
- , Daniel H Geschwind
- , Maja Bucan
- , W Ted Brown
- , Rita M Cantor
- , John N Constantino
- , T Conrad Gilliam
- , Martha Herbert
- , Clara LaJonchere
- , David H Ledbetter
- , Christa Lese-Martin
- , Janet Miller
- , Stan Nelson
- , Carol A Samango-Sprouse
- , Sarah Spence
- , Matthew State
- , Rudolph E Tanzi
- , Hilary Coon
- , Geraldine Dawson
- , Bernie Devlin
- , Annette Estes
- , Pamela Flodman
- , Lambertus Klei
- , William M McMahon
- , Nancy Minshew
- , Jeff Munson
- , Elena Korvatska
- , Patricia M Rodier
- , Gerard D Schellenberg
- , Moyra Smith
- , M Anne Spence
- , Chris Stodgell
- , Ping Guo Tepper
- , Ellen M Wijsman
- , Chang-En Yu
- , Bernadette Rogé
- , Carine Mantoulan
- , Kerstin Wittemeyer
- , Annemarie Poustka
- , Bärbel Felder
- , Sabine M Klauck
- , Claudia Schuster
- , Fritz Poustka
- , Sven Bölte
- , Sabine Feineis-Matthews
- , Evelyn Herbrecht
- , Gabi Schmötzer
- , John Tsiantis
- , Katerina Papanikolaou
- , Elena Maestrini
- , Elena Bacchelli
- , Francesca Blasi
- , Simona Carone
- , Claudio Toma
- , Herman Van Engeland
- , Maretha de Jonge
- , Chantal Kemner
- , Frederieke Koop
- , Marjolein Langemeijer
- , Channa Hijmans
- , Wouter G Staal
- , Gillian Baird
- , Patrick F Bolton
- , Michael L Rutter
- , Emma Weisblatt
- , Jonathan Green
- , Catherine Aldred
- , Julie-Anne Wilkinson
- , Andrew Pickles
- , Ann Le Couteur
- , Tom Berney
- , Helen McConachie
- , Anthony J Bailey
- , Kostas Francis
- , Gemma Honeyman
- , Aislinn Hutchinson
- , Jeremy R Parr
- , Simon Wallace
- , Anthony P Monaco
- , Gabrielle Barnby
- , Kazuhiro Kobayashi
- , Janine A Lamb
- , Ines Sousa
- , Nuala Sykes
- , Edwin H Cook
- , Stephen J Guter
- , Bennett L Leventhal
- , Jeff Salt
- , Catherine Lord
- , Christina Corsello
- , Vanessa Hus
- , Daniel E Weeks
- , Fred Volkmar
- , Maïté Tauber
- , Eric Fombonne
- & Andy Shih
Contributions
P.S., A.D.P., S.W.S., V.J.V., M.A.P.-V., C.B., J.D.B., J.H., J.S.S., J.H., J.L.H., J.P., T.H.W., D.H.G., R.C., S.N., G.D., G.D.S., B.D., W.M.M., E.M.W., A.J.B., A.P.M. and E.H.C. were lead AGP investigators and contributed equally to this project.
The Autism Genome Project (AGP). The AGP comprises four existing consortia of partners or countries (listed alphabetically below).
Autism Genetics Cooperative. Canagen: P.S., A.D.P., L.Z., W.R., J.B., X.-Q.L., J.B.V., J.L.S., A.P.T., L.S., L.F., C.Q., S.E.B., M.B.J., C.R.M. and S.W.S. Iowa Data Coordinating Center: V.J.V., C.B., L.V.M., R.G. and A.S. University of Miami: M.A.P.-V., M.L.C. and J.R.G. University of South Carolina: H.H.W., R.K.A. Paris Autism Research: International Sibpair Study: C.B., T.B., C.G. and M.L. Seaver Autism Research Center: J.D.B., K.L.D., E.H. and J.M.S. Stanford University: J.H. and L.L. Vanderbilt University: J.S.S., J.L.H. and S.E.F. University of North Carolina/University of Iowa: J.P., T.H.W., K.J.M. and V.S.
The Autism Genetic Resource Exchange Consortium. D.H.G., M.B., W.T.B., R.M.C., J.N.C., T.C.G., M.H., C.LaJ., D.H.L., C.L.-M., J.M., S.N. C.A.S.-S., S.S., M.S. and R.E.T.
The Collaborative Programs of Excellence in Autism. H.C., G.D., B.D., A.E., P.F., L.K., W.M.McM., N.M., J.M., E.K., P.M.R., G.D.S., M.S., M.A.S., C.S., P.G.T., E.M.W. and C.-E.Y.
The International Molecular Genetic Study of Autism Consortium. France: B.R., C.M., K.W. and M.T. Germany: A.P., B.F., S.M.K., C.S., F.P., S.B., S.F.-M., E.H. and G.S. Greece: J.T., K.P. Italy: E.M., E.B., F.B., S.C. and C.T. The Netherlands: H.V.E., M. de J., C.K., F.K., M.L., C.H. and W.G.S. UK: G.B., P.F.B., M.L.R., E.W., J.G., C.A., J.-A.W., A.P., A.LeC., T.B., H.McC., A.J.B., K.F., G.H., A.H., J.R.P., S.W., A.P.M., G.B., K.K., J.A.L., I.S. and N.S. USA: E.H.C., S.J.G., B.L.L., J.S., C.L., C.C., V.H., D.E.W. and F.V. Canada: E.F.
Scientific management. A.S.
Corresponding authors
Correspondence toStephen W Scherer or Bernie Devlin.
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The author declare no competing financial interests.
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The Autism Genome Project Consortium. Mapping autism risk loci using genetic linkage and chromosomal rearrangements.Nat Genet 39, 319–328 (2007). https://doi.org/10.1038/ng1985
- Received: 16 October 2006
- Accepted: 19 January 2007
- Published: 18 February 2007
- Issue Date: March 2007
- DOI: https://doi.org/10.1038/ng1985