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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- Weiner, D. J. (author)
- Wigdor, E. M. (author)
- Ripke, S. (author)
- show more...
- Walters, R. K. (author)
- Kosmicki, J. A. (author)
- Grove, J. (author)
- Samocha, K. E. (author)
- Goldstein, J. I. (author)
- Okbay, A. (author)
- Bybjerg-Grauholm, J. (author)
- Werge, T. (author)
- Hougaard, D. M. (author)
- Taylor, J. (author)
- Skuse, D. (author)
- Devlin, B. (author)
- Anney, R. (author)
- Bishop, S. (author)
- Mortensen, P. B. (author)
- Borglum, A. D. (author)
- Smith, G. D. (author)
- Daly, M. J. (author)
- Robinson, E. B. (author)
- Baekvad-Hansen, M. (author)
- Dumont, A. (author)
- Hansen, C. (author)
- Hansen, T. F. (author)
- Howrigan, D. (author)
- Moran, J. (author)
- Mors, O. (author)
- Nordentoft, M. (author)
- Norgaard-Pedersen, B. (author)
- Poterba, T. (author)
- Poulsen, J. (author)
- Stevens, C. (author)
- Anttila, V. (author)
- Holmans, P. (author)
- Huang, H. L. (author)
- Klei, L. (author)
- Lee, P. H. (author)
- Medland, S. E. (author)
- Neale, B. (author)
- Weiss, L. A. (author)
- Zwaigenbaum, L. (author)
- Yu, T. W. (author)
- Wittemeyer, K. (author)
- Willsey, A. J. (author)
- Wijsman, E. M. (author)
- Wassink, T. H. (author)
- Waltes, R. (author)
- Walsh, C. A. (author)
- Wallace, S. (author)
- Vorstman, J. A. S. (author)
- Vieland, V. J. (author)
- Vicente, A. M. (author)
- van Engeland, H. (author)
- Tsang, K. (author)
- Thompson, A. P. (author)
- Szatmari, P. (author)
- Svantesson, O. (author)
- Stefansson, K. (author)
- Stefansson, H. (author)
- State, M. W. (author)
- Soorya, L. (author)
- Silagadze, T. (author)
- Scherer, S. W. (author)
- Schellenberg, G. D. (author)
- Sandin, S. (author)
- Saemundsen, E. (author)
- Rouleau, G. A. (author)
- Roge, B. (author)
- Roeder, K. (author)
- Roberts, W. (author)
- Reichert, J. (author)
- Reichenberg, A. (author)
- Rehnstrom, K. (author)
- Regan, R. (author)
- Poustka, F. (author)
- Poultney, C. S. (author)
- Piven, J. (author)
- Pinto, D. (author)
- Pericak-Vance, M. A. (author)
- Pejovic-Milovancevic, M. (author)
- Pedersen, M. G. (author)
- Pedersen, C. B. (author)
- Paterson, A. D. (author)
- Parr, J. R. (author)
- Pagnamenta, A. T. (author)
- Oliveira, G. (author)
- Nurnberger, J. I. (author)
- Nordentoft, M. (author)
- Murtha, M. T. (author)
- Mouga, S. (author)
- Mors, O. (author)
- Morrow, E. M. (author)
- De Luca, D. M. (author)
- Monaco, A. P. (author)
- Minshew, N. (author)
- Merikangas, A. (author)
- McMahon, W. M. (author)
- McGrew, S. G. (author)
- Mattheisen, M. (author)
- Martsenkovsky, I. (author)
- Martin, D. M. (author)
- Mane, S. M. (author)
- Magnusson, P. (author)
- Magalhaes, T. (author)
- Maestrini, E. (author)
- Lowe, J. K. (author)
- Lord, C. (author)
- Levitt, P. (author)
- Martin, C. L. (author)
- Ledbetter, D. H. (author)
- Leboyer, M. (author)
- Le Couteur, A. S. (author)
- Ladd-Acosta, C. (author)
- Kolevzon, A. (author)
- Klauck, S. M. (author)
- Jacob, S. (author)
- Iliadou, B. (author)
- Hultman, C. M. (author)
- Hertz-Picciotto, I. (author)
- Hendren, R. (author)
- Hansen, C. S. (author)
- Haines, J. L. (author)
- Guter, S. J. (author)
- Grice, D. E. (author)
- Green, J. M. (author)
- Green, A. (author)
- Goldberg, A. P. (author)
- Gilbert, J. (author)
- Gallagher, L. (author)
- Freitag, C. M. (author)
- Fombonne, E. (author)
- Folstein, S. E. (author)
- Fernandez, B. (author)
- Fallin, M. D. (author)
- Ercan-Sencicek, A. G. (author)
- Ennis, S. (author)
- Duque, F. (author)
- Duketis, E. (author)
- Delorme, R. (author)
- De Rubeis, S. (author)
- De Jonge, M. V. (author)
- Dawson, G. (author)
- Cuccaro, M. L. (author)
- Correia, C. T. (author)
- Conroy, J. (author)
- Conceicao, I. C. (author)
- Chiocchetti, A. G. (author)
- Celestino-Soper, P. B. S. (author)
- Casey, J. (author)
- Cantor, R. M. (author)
- Cafe, C. (author)
- Brennan, S. (author)
- Bourgeron, T. (author)
- Bolton, P. F. (author)
- Bolte, S. (author)
- Bolshakova, N. (author)
- Betancur, C. (author)
- Bernier, R. (author)
- Beaudet, A. L. (author)
- Battaglia, A. (author)
- Bal, V. H. (author)
- Baird, G. (author)
- Bailey, A. J. (author)
- Baekvad-Hansen, M. (author)
- Bader, J. S. (author)
- Bacchelli, E. (author)
- Anagnostou, E. (author)
- Amaral, D. (author)
- Almeida, J. (author)
- Buxbaum, J. D. (author)
- Chakravarti, A. (author)
- Cook, E. H. (author)
- Coon, H. (author)
- Geschwind, D. H. (author)
- Gill, M. (author)
- Hakonarson, H. (author)
- Hallmayer, J. (author)
- Palotie, A. (author)
- Santangelo, S. (author)
- Sutcliffe, J. S. (author)
- Arking, D. E. (author)
- i, Psych-Broad Autism Grp Psychiat Genomics Consortium (author)
- show less...
- (creator_code:org_t)
- 2017-05-15
- 2017
- English.
- In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 49:7, s. 978-
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, we show that polygenic risk for ASD, schizophrenia, and greater educational attainment is over-transmitted to children with ASD. These findings hold independent of proband IQ. We find that polygenic variation contributes additively to risk in ASD cases who carry a strongly acting de novo variant. Lastly, we show that elements of polygenic risk are independent and differ in their relationship with phenotype. These results confirm that the genetic influences on ASD are additive and suggest that they create risk through at least partially distinct etiologic pathways.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- genome-wide association
- de-novo
- genetic risk
- general-population
- variants
- mutations
- insights
- disease
- biology
- loci
- Genetics & Heredity
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
- Weiner, D. J.
- Wigdor, E. M.
- Ripke, S.
- Walters, R. K.
- Kosmicki, J. A.
- Grove, J.
- show more...
- Samocha, K. E.
- Goldstein, J. I.
- Okbay, A.
- Bybjerg-Grauholm ...
- Werge, T.
- Hougaard, D. M.
- Taylor, J.
- Skuse, D.
- Devlin, B.
- Anney, R.
- Sanders, S. J.
- Bishop, S.
- Mortensen, P. B.
- Borglum, A. D.
- Smith, G. D.
- Daly, M. J.
- Robinson, E. B.
- Baekvad-Hansen, ...
- Dumont, A.
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- Poterba, T.
- Poulsen, J.
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- Medland, S. E.
- Neale, B.
- Weiss, L. A.
- Zwaigenbaum, L.
- Yu, T. W.
- Wittemeyer, K.
- Willsey, A. J.
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- Waltes, R.
- Walsh, C. A.
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- Steinberg, S.
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- Mane, S. M.
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- Magalhaes, T.
- Maestrini, E.
- Lowe, J. K.
- Lord, C.
- Levitt, P.
- Martin, C. L.
- Ledbetter, D. H.
- Leboyer, M.
- Le Couteur, A. S ...
- Ladd-Acosta, C.
- Kolevzon, A.
- Klauck, S. M.
- Jacob, S.
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- Hultman, C. M.
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- Hendren, R.
- Hansen, C. S.
- Haines, J. L.
- Guter, S. J.
- Grice, D. E.
- Green, J. M.
- Green, A.
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- Delorme, R.
- De Rubeis, S.
- De Jonge, M. V.
- Dawson, G.
- Cuccaro, M. L.
- Correia, C. T.
- Conroy, J.
- Conceicao, I. C.
- Chiocchetti, A. ...
- Celestino-Soper, ...
- Casey, J.
- Cantor, R. M.
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- Bourgeron, T.
- Bolton, P. F.
- Bolte, S.
- Bolshakova, N.
- Betancur, C.
- Bernier, R.
- Beaudet, A. L.
- Battaglia, A.
- Bal, V. H.
- Baird, G.
- Bailey, A. J.
- Bader, J. S.
- Bacchelli, E.
- Anagnostou, E.
- Amaral, D.
- Almeida, J.
- Buxbaum, J. D.
- Chakravarti, A.
- Cook, E. H.
- Coon, H.
- Geschwind, D. H.
- Gill, M.
- Hakonarson, H.
- Hallmayer, J.
- Palotie, A.
- Santangelo, S.
- Sutcliffe, J. S.
- Arking, D. E.
- i, Psych-Broad A ...
- show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- and Neurology
- Articles in the publication
- Nature Genetics
- By the university
- University of Gothenburg
- Karolinska Institutet
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