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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Aysu Okbay

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

David M. Hougaard

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

David Skuse

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Bernie Devlin

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Richard Anney

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Stephan Sanders

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

Somer Bishop

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

George Davey Smith

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

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site

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.

Find this author on Google Scholar
Find this author on PubMed
Search for this author on this site
For correspondence: [email protected]

For correspondence: [email protected]

Abstract
Full Text
Info/History
Metrics
Supplementary material
Preview PDF

You do not have access to the full text of this article, the first page of the PDF of this article appears above.

The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-NC-ND 4.0 International license.