To the top

Page Manager: Webmaster
Last update: 9/11/2012 3:13 PM

Tell a friend about this page
Print version

Polygenic transmission di… - University of Gothenburg, Sweden Till startsida
To content Read more about how we use cookies on

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

Journal article
Authors D. J. Weiner
E. M. Wigdor
S. Ripke
R. K. Walters
J. A. Kosmicki
J. Grove
K. E. Samocha
J. I. Goldstein
A. Okbay
J. Bybjerg-Grauholm
T. Werge
D. M. Hougaard
J. Taylor
D. Skuse
B. Devlin
R. Anney
S. J. Sanders
S. Bishop
P. B. Mortensen
A. D. Borglum
G. D. Smith
M. J. Daly
E. B. Robinson
M. Baekvad-Hansen
A. Dumont
C. Hansen
T. F. Hansen
D. Howrigan
M. Mattheisen
J. Moran
O. Mors
M. Nordentoft
B. Norgaard-Pedersen
T. Poterba
J. Poulsen
C. Stevens
V. Anttila
P. Holmans
H. L. Huang
L. Klei
P. H. Lee
S. E. Medland
B. Neale
L. A. Weiss
L. Zwaigenbaum
T. W. Yu
K. Wittemeyer
A. J. Willsey
E. M. Wijsman
T. H. Wassink
R. Waltes
C. A. Walsh
S. Wallace
J. A. S. Vorstman
V. J. Vieland
A. M. Vicente
H. van Engeland
K. Tsang
A. P. Thompson
P. Szatmari
O. Svantesson
S. Steinberg
K. Stefansson
H. Stefansson
M. W. State
L. Soorya
T. Silagadze
S. W. Scherer
G. D. Schellenberg
S. Sandin
E. Saemundsen
G. A. Rouleau
B. Roge
K. Roeder
W. Roberts
J. Reichert
A. Reichenberg
K. Rehnstrom
R. Regan
F. Poustka
C. S. Poultney
J. Piven
D. Pinto
M. A. Pericak-Vance
M. Pejovic-Milovancevic
M. G. Pedersen
C. B. Pedersen
A. D. Paterson
J. R. Parr
A. T. Pagnamenta
G. Oliveira
J. I. Nurnberger
M. Nordentoft
M. T. Murtha
S. Mouga
O. Mors
E. M. Morrow
D. M. De Luca
A. P. Monaco
N. Minshew
A. Merikangas
W. M. McMahon
S. G. McGrew
M. Mattheisen
I. Martsenkovsky
D. M. Martin
S. M. Mane
P. Magnusson
T. Magalhaes
E. Maestrini
J. K. Lowe
C. Lord
P. Levitt
C. L. Martin
D. H. Ledbetter
M. Leboyer
A. S. Le Couteur
C. Ladd-Acosta
A. Kolevzon
S. M. Klauck
S. Jacob
B. Iliadou
C. M. Hultman
I. Hertz-Picciotto
R. Hendren
C. S. Hansen
J. L. Haines
S. J. Guter
D. E. Grice
J. M. Green
A. Green
A. P. Goldberg
Christopher Gillberg
J. Gilbert
L. Gallagher
C. M. Freitag
E. Fombonne
S. E. Folstein
B. Fernandez
M. D. Fallin
A. G. Ercan-Sencicek
S. Ennis
F. Duque
E. Duketis
R. Delorme
S. De Rubeis
M. V. De Jonge
G. Dawson
M. L. Cuccaro
C. T. Correia
J. Conroy
I. C. Conceicao
A. G. Chiocchetti
P. B. S. Celestino-Soper
J. Casey
R. M. Cantor
C. Cafe
S. Brennan
T. Bourgeron
P. F. Bolton
S. Bolte
N. Bolshakova
C. Betancur
R. Bernier
A. L. Beaudet
A. Battaglia
V. H. Bal
G. Baird
A. J. Bailey
M. Baekvad-Hansen
J. S. Bader
E. Bacchelli
E. Anagnostou
D. Amaral
J. Almeida
J. D. Buxbaum
A. Chakravarti
E. H. Cook
H. Coon
D. H. Geschwind
M. Gill
H. Hakonarson
J. Hallmayer
A. Palotie
S. Santangelo
J. S. Sutcliffe
D. E. Arking
Psych-Broad Autism Grp Psychiat Genomics Consortium i
Published in Nature Genetics
Volume 49
Issue 7
Pages 978-+
ISSN 1061-4036
Publication year 2017
Published at Gillberg Neuropsychiatry Centre
Pages 978-+
Language en
Keywords genome-wide association, de-novo, genetic risk, general-population, variants, mutations, insights, disease, biology, loci, Genetics & Heredity
Subject categories Neurology


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.

Page Manager: Webmaster|Last update: 9/11/2012

The University of Gothenburg uses cookies to provide you with the best possible user experience. By continuing on this website, you approve of our use of cookies.  What are cookies?