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Molecular Autism
Published in: Molecular Autism 1/2012

Open Access 01-12-2012 | Research

Common genetic variants, acting additively, are a major source of risk for autism

Authors: Lambertus Klei, Stephan J Sanders, Michael T Murtha, Vanessa Hus, Jennifer K Lowe, A Jeremy Willsey, Daniel Moreno-De-Luca, Timothy W Yu, Eric Fombonne, Daniel Geschwind, Dorothy E Grice, David H Ledbetter, Catherine Lord, Shrikant M Mane, Christa Lese Martin, Donna M Martin, Eric M Morrow, Christopher A Walsh, Nadine M Melhem, Pauline Chaste, James S Sutcliffe, Matthew W State, Edwin H Cook Jr, Kathryn Roeder, Bernie Devlin

Published in: Molecular Autism | Issue 1/2012

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Abstract

Background

Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo genetic variation are known to affect liability, whether common genetic polymorphism plays a substantial role is an open question and the relative contribution of genes and environment is contentious. It is probable that the relative contributions of rare and common variation, as well as environment, differs between ASD families having only a single affected individual (simplex) versus multiplex families who have two or more affected individuals.

Methods

By using quantitative genetics techniques and the contrast of ASD subjects to controls, we estimate what portion of liability can be explained by additive genetic effects, known as narrow-sense heritability. We evaluate relatives of ASD subjects using the same methods to evaluate the assumptions of the additive model and partition families by simplex/multiplex status to determine how heritability changes with status.

Results

By analyzing common variation throughout the genome, we show that common genetic polymorphism exerts substantial additive genetic effects on ASD liability and that simplex/multiplex family status has an impact on the identified composition of that risk. As a fraction of the total variation in liability, the estimated narrow-sense heritability exceeds 60% for ASD individuals from multiplex families and is approximately 40% for simplex families. By analyzing parents, unaffected siblings and alleles not transmitted from parents to their affected children, we conclude that the data for simplex ASD families follow the expectation for additive models closely. The data from multiplex families deviate somewhat from an additive model, possibly due to parental assortative mating.

Conclusions

Our results, when viewed in the context of results from genome-wide association studies, demonstrate that a myriad of common variants of very small effect impacts ASD liability.
Appendix
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Metadata
Title
Common genetic variants, acting additively, are a major source of risk for autism
Authors
Lambertus Klei
Stephan J Sanders
Michael T Murtha
Vanessa Hus
Jennifer K Lowe
A Jeremy Willsey
Daniel Moreno-De-Luca
Timothy W Yu
Eric Fombonne
Daniel Geschwind
Dorothy E Grice
David H Ledbetter
Catherine Lord
Shrikant M Mane
Christa Lese Martin
Donna M Martin
Eric M Morrow
Christopher A Walsh
Nadine M Melhem
Pauline Chaste
James S Sutcliffe
Matthew W State
Edwin H Cook Jr
Kathryn Roeder
Bernie Devlin
Publication date
01-12-2012
Publisher
BioMed Central
Published in
Molecular Autism / Issue 1/2012
Electronic ISSN: 2040-2392
DOI
https://doi.org/10.1186/2040-2392-3-9

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