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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
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Journal Article
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
2017
Overview
Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with
de novo
variants to contribute to ASD risk.
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.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Adult
/ analysis
/ Animal Genetics and Genomics
/ Autism
/ Autism Spectrum Disorder - epidemiology
/ Autism Spectrum Disorder - genetics
/ biology
/ Child
/ Children
/ de-novo
/ disease
/ Etiology
/ Family
/ Female
/ Genetic Predisposition to Disease
/ Genomes
/ Humans
/ insights
/ Intellectual Disability - genetics
/ loci
/ Male
/ Mutation
/ Pervasive developmental disorders
/ Proteins
/ Risk
/ Studies
/ variants
