Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. The Duffy-null genotype and risk of infection

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. FUT2-ABO epistasis increases the risk of early childhood asthma and Streptococcus pneumoniae respiratory illnesses

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • 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
  • Thomas Werge
  • 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
  • iPSYCH-Broad Autism Group
  • Thomas Folkmann Hansen (Medlem af forfattergruppering)
Vis graf over relationer

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: 52583458