Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Daniel J. Weiner; Emilie M. Wigdor; Stephan Ripke; Raymond K. Walters; Jack A. Kosmicki; Jakob Grove; Kaitlin E. Samocha; Jacqueline Goldstein; Aysu Okbay; Jonas Bybjerg-Gauholm; Thomas Werge; David M. Hougaard; Jacob Taylor; David Skuse; Bernie Devlin; Richard Anney; Stephan Sanders; Somer Bishop; Preben Bo Mortensen; Anders D. Børglum; George Davey Smith; Mark J. Daly; Elise B. Robinson; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group; Psychiatric Genomics Consortium Autism Group

doi:10.1101/089342

New Results

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

Daniel J. Weiner, Emilie M. Wigdor, Stephan Ripke, Raymond K. Walters, Jack A. Kosmicki, Jakob Grove, Kaitlin E. Samocha, Jacqueline Goldstein, Aysu Okbay, Jonas Bybjerg-Gauholm, Thomas Werge, David M. Hougaard, Jacob Taylor, David Skuse, Bernie Devlin, Richard Anney, Stephan Sanders, Somer Bishop, Preben Bo Mortensen, Anders D. Børglum, George Davey Smith, Mark J. Daly, Elise B. Robinson, iPSYCH-Broad Autism Group, Psychiatric Genomics Consortium Autism Group, Psychiatric Genomics Consortium Autism Group

doi: https://doi.org/10.1101/089342

Daniel J. Weiner

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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Emilie M. Wigdor

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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Stephan Ripke

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

4Department of Psychiatry and Psychotherapy, Charité, Campus Mitte, Berlin, Germany.

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Raymond K. Walters

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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Jack A. Kosmicki

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

5Program in Genetics and Genomics, Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.

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Jakob Grove

6Department of Biomedicine (Human Genetics), Aarhus University, Aarhus, Denmark.

7Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.

8Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.

9Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.

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Kaitlin E. Samocha

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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Jacqueline Goldstein

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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Aysu Okbay

10Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, 1081 HV, The Netherlands.

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Jonas Bybjerg-Gauholm

7Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.

11Danish Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.

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Thomas Werge

7Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.

12Institute of Biological Psychiatry, Mental Health Center Sct. Hans, Mental Health Services Copenhagen, Copenhagen, Denmark.

13Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

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David M. Hougaard

11Danish Center for Neonatal Screening, Department for Congenital Disorders, Statens Serum Institut, Copenhagen, Denmark.

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Jacob Taylor

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

14Department of Psychiatry, Brigham and Women’s Hospital, Boston, Massachusetts, USA.

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David Skuse

15Behavioural Sciences Unit, Institute of Child Health, University College London, London, UK.

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Bernie Devlin

16Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

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Richard Anney

17Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales, UK.

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Stephan Sanders

18Department of Psychiatry, University of California, San Francisco, San Francisco, California, USA.

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Somer Bishop

18Department of Psychiatry, University of California, San Francisco, San Francisco, California, USA.

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Preben Bo Mortensen

6Department of Biomedicine (Human Genetics), Aarhus University, Aarhus, Denmark.

7Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.

19National Centre for Register-based Research, University of Aarhus, Aarhus, Denmark.

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Anders D. Børglum

6Department of Biomedicine (Human Genetics), Aarhus University, Aarhus, Denmark.

7Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Copenhagen, Denmark.

8Centre for Integrative Sequencing, iSEQ, Aarhus University, Aarhus, Denmark.

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George Davey Smith

20Medical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, UK.

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Mark J. Daly

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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Elise B. Robinson

1Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

2Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

3Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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For correspondence: erob@broadinstitute.org

For correspondence: pgc.autism@gmail.com

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