Autism risk variants impact a continuum of social and behavioral traits within the general population

Genetic correlations between social and communication difficulties in the general population and two ASD GWAS datasets.  The estimated genetic correlation between these behavioral traits in the general population (measured by the Social and Communication Disorders Checklist, SCDC) and the PGC-ASD data was 0.27, suggesting that approximately one-quarter of the genetic influences on ASD also influence the SCDC. The genetic correlation between the SCDC and the iPSYCH-ASD data was similar. These correlations met or exceeded those previously estimated between ASD and other neuropsychiatric diseases studied by the PGC — i.e., schizophrenia (SCZ); major depressive disorder (MDD); bipolar disorder (BPD). Image from Robinson E.B. et al. (2016).
Hundreds of genetic variants contribute to risk for autism spectrum disorder (ASD), yet some of these risk factors can also be found within the general population in individuals showing no signs of neuropsychiatric symptoms. How then do genetic variations contribute to the broad behavioral and social spectrum present in the general population and to the social and behavioral deficits in individuals with ASD? To address this issue, SFARI Investigator Mark Daly and his colleagues used data from a previous genome-wide association study (GWAS) of social and communication difficulties in a general population cohort (the Avon Longitudinal Study of Parents and Children) and compared this with common genetic variants associated with ASD. The ASD data were obtained from two large and independent GWAS from the Psychiatric Genomics Consortium (PGC) and the Lundbeck Initiative for Integrative Psychiatric Research (iPSYCH) project. Daly and his colleagues also assessed associations between rare de novo variants and behaviors in ASD and unaffected individuals from the Simons Simplex Collection (SSC). Daly’s results indicate that both inherited and de novo genetic risk factors for ASD influence social and communication abilities within the general population. These data suggest that future studies of neuropsychiatric disease risk should assess a continuum of behavioral and developmental traits.


Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

Robinson E., St Pourcain B., Anttila V., Kosmicki J.A., Bulik-Sullivan B., Grove J., Maller J., Samocha K.E., Sanders S., Ripke S., Martin J., Hollegaard M.V., Werge T., Hougaard D.M., iPSYCH-SSI-Broad Autism Group, Neale B.M., Evans D.M., Skuse D., Mortensen P.B., Borglum A.D., Ronald A., Smith G.D., Daly M.

Nat. Genet. 48, 552-555 (April 30, 2016) PubMed

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