The Genetics of Autistic Traits Project 

What we want to find out

We use genetics to better understand autistic traits, autism, and co-occurring health outcomes. By studying how autistic traits vary across the whole population, we aim to understand how these traits relate to autism and to mental and physical health, while recognising autistic traits as part of human neurodiversity. 

Why we are doing this research

Historically, autism research has focused on people who already have a diagnosis and has often under-represented women and people from other marginalised groups. This has left gaps in our understanding, including understanding why many autistic women are not diagnosed, and why autistic people may experience higher rates of mental health difficulties. Our research aims to address these gaps and to build a more inclusive understanding of autistic traits across different stages of life. 

Methods

We are conducting large genome-wide association studies (GWAS) of autistic traits. We use data from the UK Biobank and other cohorts to examine genetic links between autistic traits, autism, and mental and physical health conditions. We also look at how these relationships vary across life stages and differ by biological sex and gender.   

A key part of our work is to analyse female and male genetic data separately so we can understand where genetic influences on autistic traits are similar and where they differ.   

Community engagement

We have consulted widely and deeply within the autistic and wider autism community about autism genetics, conducting both surveys and focus groups. A clear message emerging from this work is the importance of using genetics to deepen our understanding of autistic people’s physical and mental health.   

Potential impact

This work has the potential to improve understanding and recognition of autism in groups who are currently under-diagnosed, particularly autistic women. By clarifying how autistic traits relate to mental and physical health and wellbeing, our findings may shed light on autistic people’s vulnerability and their support needs. Understanding autistic traits will also deepen our understanding of neurodiversity, including the strengths of autistic people, as well as their challenges. 

Results

We anticipate sharing the results in late 2027. When ready, the key findings will be shared on this page. 

Publications

Zhang X, Grove J, Gu Y, Buus CK, Nielsen LK, Neufeld SAS, Koko M, Malawsky DS, Wade EM, Verhoef E, Gui A, Hegemann L, et al. (2025). Polygenic and developmental profiles of autism differ by age at diagnosis. Nature, 646, 1146–1155. https://doi.org/10.1038/s41586-025-09542-6 

Funders

Staff

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