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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  • Daniel J. Weiner
  • Emilie M. Wigdor
  • Stephan Ripke
  • Raymond K. Walters
  • Jack A. Kosmicki
  • Jakob Grove
  • Kaitlin E. Samocha
  • Jacqueline I. Goldstein
  • Aysu Okbay
  • Jonas Bybjerg-Grauholm
  • Werge, Thomas
  • David M. Hougaard
  • Jacob Taylor
  • David Skuse
  • Bernie Devlin
  • Richard Anney
  • Stephan J. Sanders
  • Somer Bishop
  • Preben Bo Mortensen
  • Anders D. Børglum
  • George Davey Smith
  • Mark J. Daly
  • Elise B. Robinson
  • Marie Bækvad-Hansen
  • Ashley Dumont
  • Christine Hansen
  • Thomas F. Hansen
  • Daniel Howrigan
  • Manuel Mattheisen
  • Jennifer Moran
  • Ole Mors
  • Nordentoft, Merete
  • Bent Nørgaard-Pedersen
  • Timothy Poterba
  • Jesper Poulsen
  • Christine Stevens
  • Verneri Anttila
  • Peter Holmans
  • Hailiang Huang
  • Lambertus Klei
  • Phil H. Lee
  • Sarah E. Medland
  • Benjamin Neale
  • Lauren A. Weiss
  • Lonnie Zwaigenbaum
  • Timothy W. Yu
  • Kerstin Wittemeyer
  • A. Jeremy Willsey
  • Ellen M. Wijsman
  • Thomas H. Wassink
  • Psychiatric Genomics Consortium Autism Group
  • iPSYCH-Broad Autism Group

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.

OriginalsprogEngelsk
TidsskriftNature Genetics
Vol/bind49
Udgave nummer7
Sider (fra-til)978-985
Antal sider8
ISSN1061-4036
DOI
StatusUdgivet - jul. 2017

ID: 188712434