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  • Weiner, D. J. (author)

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

  • Article/chapterEnglish2017

Publisher, publication year, extent ...

  • 2017-05-15
  • Springer Science and Business Media LLC,2017

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/255452
  • https://gup.ub.gu.se/publication/255452URI
  • https://doi.org/10.1038/ng.3863DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:136091592URI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • 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.

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  • Wigdor, E. M. (author)
  • Ripke, S. (author)
  • 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)
  • Sanders, S. J.Karolinska Institutet (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)
  • Mattheisen, M.Karolinska Institutet (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)
  • Steinberg, S.Karolinska Institutet (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)
  • Gillberg, Christopher,1950Gothenburg University,Göteborgs universitet,Gillbergcentrum,Gillberg Neuropsychiatry Centre(Swepub:gu)xgilch (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)
  • Karolinska InstitutetGillbergcentrum (creator_code:org_t)

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  • In:Nature Genetics: Springer Science and Business Media LLC49:71061-40361546-1718

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About the subject
MEDICAL AND HEALTH SCIENCES
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and Neurology
Articles in the publication
Nature Genetics
By the university
University of Gothenburg
Karolinska Institutet

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