Journal article
Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
Abstract
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.
Authors
Weiner DJ; Wigdor EM; Ripke S; Walters RK; Kosmicki JA; Grove J; Samocha KE; Goldstein JI; Okbay A; Bybjerg-Grauholm J
Journal
Nature Genetics, Vol. 49, No. 7, pp. 978–985
Publisher
Springer Nature
Publication Date
July 2017
DOI
10.1038/ng.3863
ISSN
1061-4036
Fields of Research (FoR)
Medical Subject Headings (MeSH)
AdultAutism Spectrum DisorderChildCohort StudiesEducational StatusEthnicityFamily HealthFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationGenetics, BehavioralHumansIntellectual DisabilityIntelligenceMaleMultifactorial InheritancePhenotypeRisk FactorsSchizophreniaSequence Deletion