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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. / Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.; Goldstein, Jacqueline I.; Okbay, Aysu; Bybjerg-Grauholm, Jonas; Werge, Thomas; Hougaard, David M.; Taylor, Jacob; Skuse, David; Devlin, Bernie; Anney, Richard; Sanders, Stephan J.; Bishop, Somer; Mortensen, Preben Bo; Børglum, Anders D.; Smith, George Davey; Daly, Mark J.; Robinson, Elise B.; Bækvad-Hansen, Marie; Dumont, Ashley; Hansen, Christine; Hansen, Thomas F.; Howrigan, Daniel; Mattheisen, Manuel; Moran, Jennifer; Mors, Ole; Nordentoft, Merete; Nørgaard-Pedersen, Bent; Poterba, Timothy; Poulsen, Jesper; Stevens, Christine; Anttila, Verneri; Holmans, Peter; Huang, Hailiang; Klei, Lambertus; Lee, Phil H.; Medland, Sarah E.; Neale, Benjamin; Weiss, Lauren A.; Zwaigenbaum, Lonnie; Yu, Timothy W.; Wittemeyer, Kerstin; Willsey, A. Jeremy; Wijsman, Ellen M.; Wassink, Thomas H.; Psychiatric Genomics Consortium Autism Group; iPSYCH-Broad Autism Group.
In:
Nature Genetics, Vol. 49, No. 7, 07.2017, p. 978-985.
Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
Weiner, DJ, Wigdor, EM, Ripke, S, Walters, RK, Kosmicki, JA, Grove, J, Samocha, KE, Goldstein, JI, Okbay, A, Bybjerg-Grauholm, J
, Werge, T, Hougaard, DM, Taylor, J, Skuse, D, Devlin, B, Anney, R, Sanders, SJ, Bishop, S, Mortensen, PB, Børglum, AD, Smith, GD, Daly, MJ, Robinson, EB, Bækvad-Hansen, M, Dumont, A, Hansen, C, Hansen, TF, Howrigan, D, Mattheisen, M, Moran, J, Mors, O
, Nordentoft, M, Nørgaard-Pedersen, B, Poterba, T, Poulsen, J, Stevens, C, Anttila, V, Holmans, P, Huang, H, Klei, L, Lee, PH, Medland, SE, Neale, B, Weiss, LA, Zwaigenbaum, L, Yu, TW, Wittemeyer, K, Willsey, AJ, Wijsman, EM, Wassink, TH, Psychiatric Genomics Consortium Autism Group & iPSYCH-Broad Autism Group 2017, '
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders',
Nature Genetics, vol. 49, no. 7, pp. 978-985.
https://doi.org/10.1038/ng.3863APA
Weiner, D. J., Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., Samocha, K. E., Goldstein, J. I., Okbay, A., Bybjerg-Grauholm, J.
, Werge, T., Hougaard, D. M., Taylor, J., Skuse, D., Devlin, B., Anney, R., Sanders, S. J., Bishop, S., Mortensen, P. B., ... iPSYCH-Broad Autism Group (2017).
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nature Genetics,
49(7), 978-985.
https://doi.org/10.1038/ng.3863Vancouver
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J et al.
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nature Genetics. 2017 Jul;49(7):978-985.
https://doi.org/10.1038/ng.3863Author
Weiner, Daniel J. ; Wigdor, Emilie M. ; Ripke, Stephan ; Walters, Raymond K. ; Kosmicki, Jack A. ; Grove, Jakob ; Samocha, Kaitlin E. ; Goldstein, Jacqueline I. ; Okbay, Aysu ; Bybjerg-Grauholm, Jonas ; Werge, Thomas ; Hougaard, David M. ; Taylor, Jacob ; Skuse, David ; Devlin, Bernie ; Anney, Richard ; Sanders, Stephan J. ; Bishop, Somer ; Mortensen, Preben Bo ; Børglum, Anders D. ; Smith, George Davey ; Daly, Mark J. ; Robinson, Elise B. ; Bækvad-Hansen, Marie ; Dumont, Ashley ; Hansen, Christine ; Hansen, Thomas F. ; Howrigan, Daniel ; Mattheisen, Manuel ; Moran, Jennifer ; Mors, Ole ; Nordentoft, Merete ; Nørgaard-Pedersen, Bent ; Poterba, Timothy ; Poulsen, Jesper ; Stevens, Christine ; Anttila, Verneri ; Holmans, Peter ; Huang, Hailiang ; Klei, Lambertus ; Lee, Phil H. ; Medland, Sarah E. ; Neale, Benjamin ; Weiss, Lauren A. ; Zwaigenbaum, Lonnie ; Yu, Timothy W. ; Wittemeyer, Kerstin ; Willsey, A. Jeremy ; Wijsman, Ellen M. ; Wassink, Thomas H. ; Psychiatric Genomics Consortium Autism Group ; iPSYCH-Broad Autism Group. / Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. In: Nature Genetics. 2017 ; Vol. 49, No. 7. pp. 978-985.
Bibtex
@article{44480d93a2c641dc950f96aa4d0c1257,
title = "Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders",
abstract = "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.",
author = "Weiner, {Daniel J.} and Wigdor, {Emilie M.} and Stephan Ripke and Walters, {Raymond K.} and Kosmicki, {Jack A.} and Jakob Grove and Samocha, {Kaitlin E.} and Goldstein, {Jacqueline I.} and Aysu Okbay and Jonas Bybjerg-Grauholm and Thomas Werge and Hougaard, {David M.} and Jacob Taylor and David Skuse and Bernie Devlin and Richard Anney and Sanders, {Stephan J.} and Somer Bishop and Mortensen, {Preben Bo} and B{\o}rglum, {Anders D.} and Smith, {George Davey} and Daly, {Mark J.} and Robinson, {Elise B.} and Marie B{\ae}kvad-Hansen and Ashley Dumont and Christine Hansen and Hansen, {Thomas F.} and Daniel Howrigan and Manuel Mattheisen and Jennifer Moran and Ole Mors and Merete Nordentoft and Bent N{\o}rgaard-Pedersen and Timothy Poterba and Jesper Poulsen and Christine Stevens and Verneri Anttila and Peter Holmans and Hailiang Huang and Lambertus Klei and Lee, {Phil H.} and Medland, {Sarah E.} and Benjamin Neale and Weiss, {Lauren A.} and Lonnie Zwaigenbaum and Yu, {Timothy W.} and Kerstin Wittemeyer and Willsey, {A. Jeremy} and Wijsman, {Ellen M.} and Wassink, {Thomas H.} and {Psychiatric Genomics Consortium Autism Group} and {iPSYCH-Broad Autism Group}",
year = "2017",
month = jul,
doi = "10.1038/ng.3863",
language = "English",
volume = "49",
pages = "978--985",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "7",
}
RIS
TY - JOUR
T1 - Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
AU - Weiner, Daniel J.
AU - Wigdor, Emilie M.
AU - Ripke, Stephan
AU - Walters, Raymond K.
AU - Kosmicki, Jack A.
AU - Grove, Jakob
AU - Samocha, Kaitlin E.
AU - Goldstein, Jacqueline I.
AU - Okbay, Aysu
AU - Bybjerg-Grauholm, Jonas
AU - Werge, Thomas
AU - Hougaard, David M.
AU - Taylor, Jacob
AU - Skuse, David
AU - Devlin, Bernie
AU - Anney, Richard
AU - Sanders, Stephan J.
AU - Bishop, Somer
AU - Mortensen, Preben Bo
AU - Børglum, Anders D.
AU - Smith, George Davey
AU - Daly, Mark J.
AU - Robinson, Elise B.
AU - Bækvad-Hansen, Marie
AU - Dumont, Ashley
AU - Hansen, Christine
AU - Hansen, Thomas F.
AU - Howrigan, Daniel
AU - Mattheisen, Manuel
AU - Moran, Jennifer
AU - Mors, Ole
AU - Nordentoft, Merete
AU - Nørgaard-Pedersen, Bent
AU - Poterba, Timothy
AU - Poulsen, Jesper
AU - Stevens, Christine
AU - Anttila, Verneri
AU - Holmans, Peter
AU - Huang, Hailiang
AU - Klei, Lambertus
AU - Lee, Phil H.
AU - Medland, Sarah E.
AU - Neale, Benjamin
AU - Weiss, Lauren A.
AU - Zwaigenbaum, Lonnie
AU - Yu, Timothy W.
AU - Wittemeyer, Kerstin
AU - Willsey, A. Jeremy
AU - Wijsman, Ellen M.
AU - Wassink, Thomas H.
AU - Psychiatric Genomics Consortium Autism Group
AU - iPSYCH-Broad Autism Group
PY - 2017/7
Y1 - 2017/7
N2 - 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.
AB - 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.
U2 - 10.1038/ng.3863
DO - 10.1038/ng.3863
M3 - Journal article
C2 - 28504703
AN - SCOPUS:85021757773
VL - 49
SP - 978
EP - 985
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 7
ER -
