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

doi:10.1038/ng.3863

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Article

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

Nature genetics - 1 Jul 2017

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

Abstract excerpt

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...

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Identifiers

PMID: 28504703
DOI: 10.1038/ng.3863
PMCID: PMC5552240

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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