Journal
NATURE GENETICS
Volume 49, Issue 7, Pages 978-+Publisher
NATURE PORTFOLIO
DOI: 10.1038/ng.3863
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Funding
- National Institute of Mental Health [1K01MH099286-01A1, 5U01MH094432-02]
- Brain Behavior Research Foundation (NARSAD) [22379]
- Stanley Center for Psychiatric Research at the Broad Institute
- ERC [647648]
- Lundbeck Foundation
- university and university hospitals of Aarhus
- university and university hospitals of Copenhagen
- Stanley Foundation
- Simons Foundation [SFARI 311789, SFARI 402281]
- MRC [MC_UU_12013/1] Funding Source: UKRI
- Lundbeck Foundation [R155-2014-1724] Funding Source: researchfish
- Medical Research Council [MC_UU_12013/1, MR/L010305/1] Funding Source: researchfish
- European Research Council (ERC) [647648] Funding Source: European Research Council (ERC)
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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.
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