Completed Genetics & Molecular Biology Psychology & Behaviour

Common Variant Genetics of Autism and Autistic Traits (GWAS) Consortium

Funder Wellcome Charity-funded
Associated organisations University of California, Los Angeles · University of Cambridge · Wellcome Sanger Institute Europe PMC affiliations are not treated as award recipients or mapped locations.
Funding £3.2M
Period Jan 2019 — Jan 2024

In plain English

AI plain-English summary

Autism’s genetic roots remain stubbornly hidden, with far fewer risk locations found than in other conditions like schizophrenia. The problem is that common genetic variants—those carried by many people—are thought to account for a large share of autism risk, yet the largest studies to date have turned up only a handful of associated DNA regions. This consortium aims to change that by building a UK-wide biobank of people with autism, linking their genetic data to health records, and running the largest-ever genome-wide scans of both diagnosed autism and autistic traits in the general population. If successful, the work could reveal dozens or hundreds of common variants that contribute to autism, sharpening polygenic risk scores and giving researchers a clearer biological picture of the condition. That deeper understanding could eventually guide more precise diagnostic tools or point toward molecular pathways for intervention. For now, the project is fundamental science—mapping the genetic architecture of a complex, lifelong condition—but past discoveries in psychiatric genetics have repeatedly opened unexpected routes to treatment.

View original technical description
Autism is a life-long developmental condition with a prevalence of approximately 1%, and heritability estimates of between 64-92%. It is polygenic, with variants across the frequency spectrum (from rare to common) contributing to risk. Considerable progress has been made in identifying rare variants in autism, but the largest genome-wide association study (GWAS) of autism (18,000 cases, 28,000 controls) identified only five loci associated with autism, compared to 179 in schizophrenia (40,000 cases, 65,000 controls). Polygenic scores account for 2.45% of the variance in autism, despite 30-50% of the variance in risk for autism being attributable to common variants, suggesting many more common variants remain to be found. Additionally, autistic traits are normally distributed in the general population, but there is no well-powered GWAS of autistic traits. The proposed research aims to accelerate the discovery of common, low frequency, and copy number variants in autism and autistic traits. Specifically, we will: (1) Establish a UK-wide Autism Biobank (N = 10,000 cases), with links to electronic health records and who can be recalled by genotype; (2) Conduct a GWAS of autism in 100K cases from around the world; and (3) Conduct a GWAS of autistic traits in the population in 250K individuals

View the original record at the funder ↗

Researchers

Daniel Geschwind (EPMC Awardee)David Rowitch (EPMC Awardee)Matthew Hurles (EPMC Awardee)Simon Baron-Cohen (EPMC Awardee)

Related Research

Grants with similar aims, by meaning.

The Autism Genome Project
A population-based twin-study of autism spectrum disorders: genetic and environmental sources of cognitive and clinical
Genome-wide association meta-analysis (gwas) of autistic traits
Psychiatric Comorbidity in Autism Spectrum Disorder
Autism gene sequencing study

Original classification

Collaborative Award in Science

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