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

**Authors:** Elise B. Robinson, Beate St. Pourcain, Verneri Anttila, Jack Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E. Samocha, Stephan Sanders, Stephan Ripke, Joanna Martin, Mads V. Hollegaard, Thomas Werge, David M. Hougaard, iPSYCH-SSI-Broad Autism Group, Benjamin M. Neale, David M. Evans, David Skuse, Preben Bo Mortensen, Anders D. Børglum, Angelica Ronald, George Davey Smith, Mark J. Daly

bioRxiv · DOI: 10.1101/027771 · bioRxiv · 2015-01-01

## TL;DR

This study shows that genetic risk factors for autism exist in the general population and affect a range of social and developmental traits, not just severe cases.

## Contribution

The study demonstrates that both inherited and de novo genetic variations link autism risk to a continuum of behavioral traits in the general population.

## Key findings

- Genetic risk for autism is associated with typical variation in social behavior and adaptive functioning.
- Both inherited and de novo genetic variations contribute to a continuum of behavioral and developmental traits.
- The continuum model suggests that severe manifestations of these traits can lead to autism or other neuropsychiatric diagnoses.

## Abstract

Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of that risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortia and population based resources, we find genetic links between ASDs and typical variation in social behavior and adaptive functioning. This finding is evidenced through both inherited and de novo variation, indicating that multiple types of genetic risk for ASDs influence a continuum of behavioral and developmental traits, the severe tail of which can result in an ASD or other neuropsychiatric disorder diagnosis. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology.

## Full text

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## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/10.1101/027771/full.md

## References

36 references — full list in the complete paper: https://tomesphere.com/paper/10.1101/027771/full.md

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Source: https://tomesphere.com/paper/10.1101/027771