Mapping autism risk loci using genetic linkage and chromosomal rearrangements (original) (raw)

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Gene Expression Omnibus

Change history

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

  1. 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

  1. Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, L8N 3Z5, Ontario, Canada
    Peter Szatmari, Ann P Thompson & Ping Guo Tepper
  2. 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
  3. Department of Pediatrics, McMaster University, Hamilton, L8N 3Z5, Ontario, Canada
    Lonnie Zwaigenbaum
  4. Autism Research Unit, The Hospital for Sick Children, Toronto, M5G 1X8, Ontario, Canada
    Wendy Roberts, Jessica Brian & Lili Senman
  5. Clarke Institute and Department of Psychiatry, Centre for Addiction and Mental Health, University of Toronto, Toronto, M5G 1X8, Ontario, Canada
    John B Vincent
  6. Departments of Pediatrics and Psychology, Izaak Walton Killam Health Centre – Dalhousie University, Halifax, B3K 6R8, Nova Scotia, Canada
    Susan E Bryson
  7. Department of Neural and Behavioral Sciences, The Pennsylvania State University College of Medicine, Hershey, 17033, Pennsylvania, USA
    Marshall B Jones
  8. Columbus Children's Research Institute, Center for Quantitative and Computational Biology, Columbus, 43205, Ohio, USA
    Veronica J Vieland, Christopher Bartlett & La Vonne Mangin
  9. Department of Computer Science, University of Iowa, Iowa City, 52242, Iowa, USA
    Rhinda Goedken & Alberto Segre
  10. 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
  11. W.S. Hall Psychiatric Institute, University of South Carolina, Columbia, 29208, South Carolina, USA
    Harry H Wright & Ruth K Abramson
  12. INSERM U513, Université Paris XII, Créteil, 94000, France
    Catalina Betancur & Marion Leboyer
  13. Human Genetics and Cognitive Functions, Institut Pasteur, Paris, 75015, France
    Thomas Bourgeron
  14. Department of Child and Adolescent Psychiatry, Goteborg University, Goteborg, 41119, Sweden
    Christopher Gillberg
  15. Department of Psychiatry, Groupe hospitalier Henri Mondor-Albert Chenevier, AP-HP, Créteil, 94000, France
    Marion Leboyer
  16. 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
  17. Department of Psychiatry, Stanford University, Stanford, 94304, California, USA
    Joachim Hallmayer & Linda Lotspeich
  18. Center for Molecular Neuroscience, Vanderbilt University, Nashville, 37232, Tennessee, USA
    James S Sutcliffe
  19. Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee, 37232, USA
    James S Sutcliffe & Jonathan L Haines
  20. Department of Psychiatry, Johns Hopkins University, Baltimore, 21287, Maryland, USA
    Susan E Folstein
  21. University of North Carolina, Chapel Hill, 27599, North Carolina, USA
    Joseph Piven
  22. University of Iowa, Iowa City, 52242, Iowa, USA
    Thomas H Wassink, Kacie J Meyer & Val Sheffield
  23. Department of Neurology, University of California - Los Angeles (UCLA) School of Medicine, Los Angeles, 90095, California, USA
    Daniel H Geschwind
  24. University of Pennsylvania, Philadelphia, 19104, Pennsylvania, USA
    Maja Bucan
  25. New York State Institute for Basic Research in Developmental Disabilities, Staten Island, 10314, New York, USA
    W Ted Brown
  26. Department of Human Genetics, UCLA School of Medicine, Los Angeles, 90095, California, USA
    Rita M Cantor & Stan Nelson
  27. Washington University School of Medicine, St. Louis, Missouri, USA
    John N Constantino
  28. University of Chicago, Chicago, 60637, Illinois, USA
    T Conrad Gilliam
  29. Harvard Medical School, Boston, 02115, Massachusetts, USA
    Martha Herbert
  30. Cure Autism Now, Los Angeles, 90036, California, USA
    Clara LaJonchere & Janet Miller
  31. Emory University, Atlanta, 30322, Georgia, USA
    David H Ledbetter & Christa Lese-Martin
  32. George Washington University, Washington, 20052, D.C., USA
    Carol A Samango-Sprouse
  33. UCLA, Los Angeles, 90095, California, USA
    Sarah Spence
  34. Yale University Child Study Center, New Haven, 06520, Connecticut, USA
    Matthew State & Fred Volkmar
  35. Massachusetts General Hospital, Boston, 02114, Massachusetts, USA
    Rudolph E Tanzi
  36. Department of Psychiatry, University of Utah, Salt Lake City, 84132, USA
    Hilary Coon & William M McMahon
  37. Department of Psychology and the Center on Human Development and Disability, University of Washington, Seattle, 98195, Washington, USA
    Geraldine Dawson & Jeff Munson
  38. Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, 98195, Washington, USA
    Geraldine Dawson & Annette Estes
  39. Department of Psychiatry, University of Pittsburgh, Pittsburgh, 15213, Pennsylvania, USA
    Bernie Devlin, Lambertus Klei & Nancy Minshew
  40. Department of Pediatrics, University of California, Irvine, California 92697, USA.,
    Pamela Flodman, Moyra Smith & M Anne Spence
  41. Geriatrics Research Education and Clinical Center, Puget Sound Veterans Affairs Medical Center, Seattle, 98108, Washington, USA
    Elena Korvatska, Gerard D Schellenberg & Chang-En Yu
  42. Department of Medicine, Gerontology and Geriatric Medicine, University of Washington, Seattle, 98104, Washington, USA
    Elena Korvatska, Gerard D Schellenberg & Chang-En Yu
  43. Department of OB/GYN, University of Rochester Medical Center, Rochester, 14642, New York, USA
    Patricia M Rodier & Chris Stodgell
  44. Departments of Neurology and Pharmacology, University of Washington, Seattle, 98195, Washington, USA
    Gerard D Schellenberg
  45. Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, 98195, Washington, USA
    Ellen M Wijsman
  46. Department of Biostatistics, University of Washington, Seattle, 98195, Washington, USA
    Ellen M Wijsman
  47. Université de Toulouse Le Mirail, Centre d'Etudes et de Recherches en Psychopathologie (CERPP), Toulouse, 31058, France
    Bernadette Rogé, Carine Mantoulan & Kerstin Wittemeyer
  48. Division of Molecular Genome Analysis, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, D-69120, Germany
    Annemarie Poustka, Bärbel Felder, Sabine M Klauck & Claudia Schuster
  49. 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
  50. Department of Child Psychiatry, National and Kapodistrian University of Athens, “Agia Sophia” Children's Hospital, Athens, 115 27, Greece
    John Tsiantis & Katerina Papanikolaou
  51. Department of Biology, University of Bologna, Bologna, 40126, Italy
    Elena Maestrini, Elena Bacchelli, Francesca Blasi, Simona Carone & Claudio Toma
  52. 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
  53. Guy's Hospital, Newcomen Centre, London, SE1 9RT, UK
    Gillian Baird
  54. Department of Child and Adolescent Psychiatry, Institute of Psychiatry, London, UK
    Patrick F Bolton
  55. Institute of Psychiatry, Social, Genetic and Developmental Psychiatry Centre (SGDP), London, SE5 8AF, UK
    Michael L Rutter
  56. University of Cambridge Clinical School, Cambridge, CB2 2AH, UK
    Emma Weisblatt
  57. University of Manchester Department of Child Psychiatry, Booth Hall Children's Hospital, Manchester, M9 7AA, UK
    Jonathan Green, Catherine Aldred & Julie-Anne Wilkinson
  58. University of Manchester School of Epidemiology and Health Science, Manchester, M13 9P, UK
    Andrew Pickles
  59. 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
  60. University of Oxford Department of Psychiatry, Oxford, OX3 7LQ, UK
    Anthony J Bailey, Kostas Francis, Gemma Honeyman, Aislinn Hutchinson, Jeremy R Parr & Simon Wallace
  61. Wellcome Trust Centre for Human Genetics, Oxford, OX3 7BN, UK
    Anthony P Monaco, Gabrielle Barnby, Kazuhiro Kobayashi, Janine A Lamb, Ines Sousa & Nuala Sykes
  62. 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
  63. University of Michigan Autism and Communicative Disorders Center (UMACC), Ann Arbor, 48109, Michigan, USA
    Catherine Lord, Christina Corsello & Vanessa Hus
  64. University of Pittsburgh Department of Human Genetics, Pittsburgh, 15213, Pennsylvania, USA
    Daniel E Weeks
  65. Service de pédiatrie et génétique médicale, CHU de Toulouse, Toulouse, France
    Maïté Tauber
  66. Montreal Children's Hospital, McGill University, Montreal, Canada
    Eric Fombonne
  67. Autism Speaks, 2 Park Avenue, New York, 10016, New York, USA
    Andy Shih

Consortia

The Autism Genome Project Consortium

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

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