Skip Navigation
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Your Environment. Your Health.

Publication Detail

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

Authors: 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; iPSYCH-Broad Autism Group; Psychiatric Genomics Consortium Autism Group; 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

Published In Nat Genet, (2017 Jul)

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.

PubMed ID: 28504703 Exiting the NIEHS site

MeSH Terms: Adult; Autism Spectrum Disorder/epidemiology; Autism Spectrum Disorder/genetics*; Child; Cohort Studies; Educational Status; Ethnic Groups/genetics; Family Health; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Variation*; Genetics, Behavioral; Humans; Intellectual Disability/genetics; Intelligence/genetics; Male; Multifactorial Inheritance*; Phenotype; Risk Factors; Schizophrenia/genetics; Sequence Deletion

Back
to Top