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Bidirectional genetic overlap between autism spectrum disorder and cognitive traits
Sigrun Hope1,2,3, Alexey A Shadrin4,5, Aihua Lin5
1K.G. Jebsen Centre for Neurodevelopmental Disorders, Institute of Clinical Medicine, University of Oslo, Oslo, Norway. Sigrun.hope@ous-hf.no.
Translational Psychiatry
|September 14, 2023
Summary
This study reveals shared genetic factors between autism spectrum disorder (ASD) and cognitive abilities like intelligence and education. Common genetic risks for ASD can influence both higher and lower cognitive functions, impacting brain regions like the cerebellum.
Area of Science:
- Genetics
- Neuroscience
- Psychiatry
Background:
- Autism spectrum disorder (ASD) is highly heritable with varied cognitive outcomes.
- Understanding the genetic overlap between ASD and cognitive traits is crucial.
Purpose of the Study:
- To investigate the shared genetic architecture between ASD, intelligence (INT), and educational attainment (EDU).
- To identify specific genetic loci jointly associated with ASD and cognitive traits.
Main Methods:
- Genome-wide association studies (GWAS) data for ASD, INT, and EDU.
- Bivariate causal mixture model (MiXeR) for estimating shared genetic variants.
- Local analysis of co-variant annotation (LAVA) and conditional false discovery rate (cond/conjFDR) for locus identification.
Main Results:
- A significant portion of genetic variants associated with ASD are also shared with EDU (12.0k) and INT (11.1k).
- Modest positive genetic correlations were observed between ASD and EDU (rg=0.21) and INT (rg=0.22).
- 43 loci were jointly associated with ASD and cognitive traits, with 27 novel for ASD; functional analysis indicated differential gene expression in the cerebellum and frontal cortex.
Conclusions:
- Common genetic factors contribute to both ASD risk and cognitive functioning, influencing a spectrum of cognitive abilities.
- These shared genetic underpinnings highlight complex biological pathways affecting cognitive variation in ASD.
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