Microduplications of 16p11.2 are associated with schizophrenia (original) (raw)

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References

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Acknowledgements

Schizophrenia: Funding support for the genome-wide association of schizophrenia study was provided by the National Institute of Mental Health (NIMH) (R01 MH67257, R01 MH59588, R01 MH59571, R01 MH59565, R01 MH59587, R01 MH60870, R01 MH59566, R01 MH59586, R01 MH61675, R01 MH60879, R01 MH81800, U01 MH46276, U01 MH46289 U01 MH46318, U01 MH79469 and U01 MH79470), and the genotyping of samples was provided through the genetic association information network (GAIN). The datasets used for the analyses described in this manuscript were obtained from the database of genotype and phenotype (dbGaP) found at http://www.ncbi.nlm.nih.gov/gap through dbGaP accession number phs000021.v2.p1. Samples and associated phenotype data for the genome-wide association of schizophrenia study were provided by the Molecular Genetics of Schizophrenia Collaboration (PI: P.V. Gejman, Evanston Northwestern Healthcare (ENH) and Northwestern University, Evanston, Illinois, USA).

Bipolar Disorder: Funding support for the whole-genome association study of bipolar disorder was provided by the NIMH and the genotyping of samples was provided through GAIN. The datasets used for the analyses described in this manuscript were obtained from dbGaP found at http://www.ncbi.nlm.nih.gov/gap through dbGaP accession number phs000017.v2.p1. Samples and associated phenotype data for the collaborative genomic study of bipolar disorder were provided by the NIMH genetics initiative for bipolar disorder. Data and biomaterials were collected in four projects that participated in the NIMH bipolar disorder genetics initiative. From 1991–1998, the principal investigators and co-investigators were: Indiana University, Indianapolis, Indiana, USA, U01 MH46282, J. Nurnberger, M. Miller and E. Bowman; Washington University, St. Louis, Missouri, USA, U01 MH46280, T. Reich, A. Goate and J. Rice; Johns Hopkins University, Baltimore, Maryland, USA, U01 MH46274, J.R. DePaulo Jr., S. Simpson and C. Stine; NIMH Intramural Research Program, Clinical Neurogenetics Branch, Bethesda, Maryland, USA, E. Gershon, D. Kazuba and E. Maxwell. Data and biomaterials were collected as part of ten projects that participated in the NIMH bipolar disorder genetics initiative. From 1999–2003, the principal investigators and co-investigators were: Indiana University, Indianapolis, Indiana, USA, R01 MH59545, J. Nurnberger, M.J. Miller, E.S. Bowman, N.L. Rau, P.R. Moe, N. Samavedy, R. El-Mallakh (at University of Louisville, Louisville, Kentucky, USA), H. Manji (at Wayne State University, Detroit, Michigan, USA), D.A. Glitz (at Wayne State University, Detroit, Michigan, USA), E.T. Meyer, C. Smiley, T. Foroud, L. Flury, D.M. Dick and H. Edenberg; Washington University, St. Louis, Missouri, USA, R01 MH059534, J. Rice, T. Reich, A. Goate and L. Bierut; Johns Hopkins University, Baltimore, Maryland, USA, R01 MH59533, M. McInnis, J.R. DePaulo Jr., D.F. MacKinnon, F.M. Mondimore, J.B. Potash, P.P. Zandi, D. Avramopoulos and J. Payne; University of Pennsylvania, Philadelphia, Pennsylvania, USA, R01 MH59553, W. Berrettini; University of California at Irvine, Irvine, California, USA, R01 MH60068, W. Byerley and M. Vawter; University of Iowa, Iowa City, Iowa, USA, R01 MH059548, W. Coryell and R. Crowe; University of Chicago, Chicago, Illinois, USA, R01 MH59535, E. Gershon, J. Badner, F. McMahon, C. Liu, A. Sanders, M. Caserta, S. Dinwiddie, T. Nguyen and D. Harakal; University of California, San Diego, La Jolla, California, USA, R01 MH59567, J. Kelsoe and R. McKinney; Rush University, Chicago, Illinois, USA, R01 MH059556, W. Scheftner, H.M. Kravitz, D. Marta, A. Vaughn-Brown and L. Bederow; NIMH Intramural Research Program, Bethesda, Maryland, USA, 1Z01MH002810-01, F.J. McMahon, L. Kassem, S. Detera-Wadleigh, L. Austin and D.L. Murphy.

Funding for this study was provided by grants from T. and V. Stanley, the Simons Foundation J.M and C.D. Stone, grants from NARSAD to F.J.M., T.G.S., D.L.L., M.-C.K. and T.W., and grants from the Essel Foundation and the Sidney R. Baer, Jr. Foundation to D.L.L. and from the Margaret Price Investigatorship to J.B.P. and V.L.W. This work was supported by grants from the National Institutes of Health (NIH) Intramural Research Program, National Institutes of Health, including National Institute of Mental Health(NIMH) grant MH076431 to J.S., which reflects co-funding from Autism Speaks, and the Southwestern Autism Research and Resource Center, as well as NIH grants to J.S. (HF004222), M.-C.K., T.W. and J.M.C. (MH083989), D.L.L. and N.R.M. (MH071523; MH31340), J.M.C. (RR000037), P.F.S. (MH074027 and MH077139), J.S.S. (MH061009), L.E.D. (MH44245), T.H.S. (GM081519) and C.K.D. (MH081810; DE016442; HD04147). We gratefully acknowledge the resources provided by the Autism Genetic Resource Exchange (AGRE) Consortium and the participating AGRE families.

The Autism Genetic Resource Exchange is a program of Autism Speaks and is supported, in part, by grant 1U24MH081810 from the National Institute of Mental Health to C.M. Lajonchere (PI). Funding for G.K., N. Craddock., M.J.O. and M.C.O. was provided by the Medical Research Council, UK, and the Wellcome Trust. The Clinical Antipsychotic Trials of Intervention Effectiveness project was funded by NIMH contract N01 MH90001. Funding was provided by the German Ministry of Education and Research BMBF (National Genome Research Network, NGFNplus, MooDS-Net grant no: 01GS08144 to SC and MN; grant no: 01GS08147 to MR). Genotyping of the Molecular Genetics of Schizophrenia study (PI Pablo Gejman) was funded by GAIN of the Foundation for the US NIH. This study makes use of data generated by the Wellcome Trust Case Control Consortium (full list of contributors is presented in the Supplementary Note Funding for that project was provided by the Wellcome Trust under award 076113. Microarray data and clinical information were provided by GAIN. Thanks to the New York Cancer Project, P. Gregersen and A. Lee for providing population control samples. Also, we wish to thank P. Gejman and D. Levinson for helpful discussions. Special thanks to J. Watson for helpful discussions and support.

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Author notes

1. Wellcome Trust Case Control Consortium Affiliations are provided in the Supplementary Note.

Authors and Affiliations

1. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA
   Shane E McCarthy, Vladimir Makarov, Seungtai Yoon, Mary Kusenda, Dheeraj Malhotra, Patricia Roccanova, Abhishek Bhandari, Kevin Pavon, B Lakshmi, Anthony Leotta, Jude Kendall, Yoon-ha Lee, Vladimir Vacic, Sydney Gary & Jonathan Sebat
2. Department of Psychological Medicine and Neurology, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK
   George Kirov, Detelina Grozeva, Nick Craddock, Michael J Owen & Michael C O'Donovan
3. Child Psychiatry Branch, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
   Anjene M Addington & Judith Rapoport
4. Department of Psychiatry, University of Washington, Seattle, Washington, USA
   Jon McClellan
5. Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina, USA
   Diana O Perkins
6. Department of Genome Sciences, University of Washington, Seattle, Washington, USA
   Diane E Dickel, Tom Walsh & Mary-Claire King
7. Graduate Program in Genetics State University of New York, Stony Brook, New York, USA
   Mary Kusenda
8. Psychology Research Laboratory, McLean Hospital, Belmont, Massachusetts, USA
   Olga Krastoshevsky, Verena Krause & Deborah L Levy
9. Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
   Ravinesh A Kumar & Susan L Christian
10. Division of Human GeneticsThe Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Elaine H Zackai, Ian D Krantz, Nancy B Spinner, Chad Haldeman-Englert & Tamim H Shaikh
11. Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Paige Kaplan & Jaya Ganesh
12. Ontario Institute for Cancer Research, Toronto, Ontario, Canada
    B Lakshmi
13. Laboratory of Statistical Genetics, The Rockefeller University, New York, USA
    Lilia M Iakoucheva
14. The Prince of Wales International Center for SANE Research, Warneford Hospital, Oxford, UK
    Timothy J Crow
15. College of Physicians and Surgeons of Columbia University, Columbia University, New York, USA
    Jeffrey A Lieberman, T Scott Stroup & Ezra Susser
16. New York State Psychiatric Hospital, New York, New York, USA
    Jeffrey A Lieberman
17. Department of Clinical Chemistry, Tampere University and University Hospital, Tampere, Finland
    Terho Lehtimäki
18. Department of Child Psychiatry, Tampere University and University Hospital, Tampere, Finland
    Kaija Puura
19. Genetic Basis of Mood and Anxiety Disorders Unit, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    Justin Pearl, Jo Steele, Layla Kassem, Jessica Wolff, Francis J McMahon & Thomas G Schulze
20. Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
    Meredith Goodell, Virginia L Willour & James B Potash
21. Department of Psychiatry Research, The Zucker Hillside Hospital, Glen Oaks, New York, USA
    Pamela DeRosse, Nisha Chitkara & Anil K Malhotra
22. Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany
    Thomas G Schulze & Marcella Rietschel
23. Department of Genomics, Life and Brain Center,
    Markus M Nöthen & Sven Cichon
24. Institute of Human Genetics, University of Bonn, Germany
    Markus M Nöthen & Sven Cichon
25. Department of Psychiatry and Psychotherapy, University of Bonn, Germany
    Marcella Rietschel
26. Mood and Anxiety Disorders Program, National Institute for Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    Ellen Leibenluft
27. Autism Genetic Resource Exchange, Autism Speaks, Los Angeles, California, USA
    Vlad Kustanovich & Clara M Lajonchere
28. Center for Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee, USA
    James S Sutcliffe
29. Behavioral Sciences Unit, Institute of Child Health University College London, London, UK
    David Skuse
30. Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland
    Michael Gill & Louise Gallagher
31. Department of Applied Mathematics and Statistics, State University of New York, Stony Brook, New York, USA
    Nancy R Mendell
32. Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA
    Lynn E DeLisi, Curtis K Deutsch & Deborah L Levy
33. VA Boston Healthcare System, Brockton, Massachusetts, USA
    Lynn E DeLisi
34. Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA
    Patrick F Sullivan
35. Eunice Kennedy Shriver Center, University of Massachusetts Medical School, Waltham, Massachusetts, USA
    Curtis K Deutsch

Authors

1. Shane E McCarthy
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2. Vladimir Makarov
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3. George Kirov
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4. Anjene M Addington
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5. Jon McClellan
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6. Seungtai Yoon
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7. Diana O Perkins
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8. Diane E Dickel
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9. Mary Kusenda
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10. Olga Krastoshevsky
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11. Verena Krause
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12. Ravinesh A Kumar
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13. Detelina Grozeva
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14. Dheeraj Malhotra
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15. Tom Walsh
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16. Elaine H Zackai
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17. Paige Kaplan
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18. Jaya Ganesh
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19. Ian D Krantz
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20. Nancy B Spinner
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21. Patricia Roccanova
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22. Abhishek Bhandari
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23. Kevin Pavon
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24. B Lakshmi
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25. Anthony Leotta
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26. Jude Kendall
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27. Yoon-ha Lee
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28. Vladimir Vacic
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29. Sydney Gary
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30. Lilia M Iakoucheva
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31. Timothy J Crow
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32. Susan L Christian
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33. Jeffrey A Lieberman
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34. T Scott Stroup
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35. Terho Lehtimäki
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36. Kaija Puura
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37. Chad Haldeman-Englert
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38. Justin Pearl
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39. Meredith Goodell
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40. Virginia L Willour
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41. Pamela DeRosse
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42. Jo Steele
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43. Layla Kassem
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44. Jessica Wolff
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45. Nisha Chitkara
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46. Francis J McMahon
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47. Anil K Malhotra
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48. James B Potash
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49. Thomas G Schulze
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50. Markus M Nöthen
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51. Sven Cichon
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52. Marcella Rietschel
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53. Ellen Leibenluft
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54. Vlad Kustanovich
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55. Clara M Lajonchere
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56. James S Sutcliffe
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57. David Skuse
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58. Michael Gill
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59. Louise Gallagher
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60. Nancy R Mendell
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61. Nick Craddock
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62. Michael J Owen
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63. Michael C O'Donovan
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64. Tamim H Shaikh
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65. Ezra Susser
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66. Lynn E DeLisi
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67. Patrick F Sullivan
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68. Curtis K Deutsch
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69. Judith Rapoport
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70. Deborah L Levy
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71. Mary-Claire King
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72. Jonathan Sebat
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Consortia

Wellcome Trust Case Control Consortium

Contributions

J.S. organized and designed the study. S.E.M., J.S., S.Y., N.R.M., M.-C.K., G.K., D.G. and A.M.A. contributed to the analysis of genetic data. S.E.M., J.S., C.K.D. and D.L.L. contributed to the analysis of clinical data. S.E.M. and J.S prepared the manuscript. All authors contributed their critical reviews of the manuscript in its preparation. The following persons contributed to the collection of samples and data: (Schizophrenia) G.K., D.G., N. Craddock, M.J.O., M.C.O., WTCCC, A.M.A., J.R., D.O.P., J.A.L., J.S.S., P.F.S., J.M., D.E.D., T.W., M.-C.K., E.S., O.K., V. Kraus, D.L.L., T.J.C. and L.E.D.; (Bipolar Disorder) J.P., M.Goodell, V.L.W., P.D., S.G., J.S., L.K., J.W., N. Chitkara, F.J.M., A.K.M., J.B.P., T.G.S., M.M.N., S.C., M.R., E.L., G.K., D.G., N. Craddock, M.J.O., M.C.O. and WTCCC; (Autism) V. Kustanovich, C.M.L., E.H.Z., P.K., J.G., I.D.K., N.B.S., C.H-E., T.H.S., M.Gill, L.G., T.L., K. Puura, R.A.K., S.L.C., J.S.S. and D.S. Array-comparative genomic hybridization data collection, processing and management at CSHL were carried out by: S.E.M., D.M., V.M., S.Y., M.K., P.R., A.B., K. Pavon, B.L., A.L., J.K., Y.-H.L., L.M.I., V.V. and J.S.

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Correspondence toJonathan Sebat.

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McCarthy, S., Makarov, V., Kirov, G. et al. Microduplications of 16p11.2 are associated with schizophrenia.Nat Genet 41, 1223–1227 (2009). https://doi.org/10.1038/ng.474

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• Received: 13 May 2009
• Accepted: 23 September 2009
• Published: 25 October 2009
• Issue Date: November 2009
• DOI: https://doi.org/10.1038/ng.474