Aim of the project

Twin and family research has established that autism is undoubtedly genetic. Previous research has identified possible genes that may contribute to the development of autism, but the spectrum nature of autism has made it challenging to identify the exact genes associated with autism.

This project will look further at these candidate genes through 'deep sequencing'.  Additionally, families who have multiple members with a diagnosis of autism will have their whole genome sequenced to see whether rare mutations linked to autism can be identified.

Additionally, funding by the Templeton World Charity Foundation, Inc. has allowed the genomes of highly talented mathematicians to be completely sequenced. With the genetic information from families, these datasets will allow us to find which gene variants are involved in mathematical ability and autistic traits.

Importance of research

Due to significant heterogeneity of autism, finding specific genes that cause autism has been difficult.  This research is important to increase our understanding of the condition and why some family members are autistic whilst others might not be.  If we improve our overall understanding of autism, scientists may be able to develop specific interventions for individuals, or develop better treatments for co-occurring conditions if the underlying genetic information is known.

Scientists involved

  • Professor Simon Baron-Cohen
  • Dr Varun Warrier
  • Dr Helena Brunel
  • Paula Smith
  • Clara Buckingham
  • Dr Carrie Allison
  • Dr Rosie Holt
  • Dr Rebecca Kenny
  • Dr Amber Ruigrok
  • Aicha Massrali
  • Dr Charles Bradshaw

Key findings

From this initial funding from us the Autism Research Centre successfully received a substantial grant from the Templeton World Charitable Foundation to extend the project.

Data from the project will be presented at the International Society for Autism Research conference in May 2018.

Published articles

Warrier, V, Baron-Cohen, S, & Chakrabarti, B, (2013) Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism. Molecular Autism, 4:48.

Durdiakova, J, Warrier, V, Baron-Cohen, S & Chakrabarti, B, (2014) Single nucleotide polymorphism rs6716901 in SLC25A12 gene is associated with Asperger syndrome. Molecular Autism, 5:25.

Durdiakova, J, Warrier, V, Banerjee-Basu, S, Baron-Cohen, S, & Chakrabarti, B, (2014) STX1A and Asperger syndrome: a replication study. Molecular Autism, 5:14.

Gregersen, P, Kowalsky, E, Lee, A, Baron-Cohen, S, Fisher, S, Asher, J, Ballard, D, Freudenberg, J and Li, W, (2013) Absolute pitch exhibits phenotypic and genetic overlap with synaesthesia. Human Molecular Genetics, 22, 2097-104.

Di Napoli, A, Warrier, V, Baron-Cohen, S, & Chakrabarti, B, (2014) Genetic variation in the oxytocin receptor (OXTR) gene is associated with Asperger Syndrome. Molecular Autism, 5, 48.

Di Napoli, A, Warrier, V, Baron-Cohen, S, & Chakrabarti, B, (2015) Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome. Molecular Autism, 6, 9.

Warrier, V, Chakrabarti, B, Murphy, L, Chan, A, Craig, I, Mallya, U, Lakatosova, S, Peltonen, L, Rehnstrom, K, Peltonen, L, Wheelwright, S, Allison, C, Fisher, S, & Baron-Cohen, S, (2015) A Pooled Genome Association Study of Asperger syndrome. PLoS ONE, 10, e0131202.

Warrier, V, Chee, V, Smith, P, Chakrabarti, B, & Baron-Cohen, S, (2015) A comprehensive meta-analysis of common genetic variants in autism spectrum conditions. Molecular Autism, 6, 49.

Baron-Cohen, S, Murphy, L, Chakrabarti, B, Craig, I, Mallya, U, Lakatosova, S, Rehnstrom, K, Peltonen, L, Wheelwright, S, Allison, C, Fisher, S, Warrier, V, (2014) A Genome Wide Association Study of Mathematical Ability Reveals an Association at Chromosome 3q29, a Locus Associated with Autism and Learning Difficulties: A Preliminary Study. PLoS ONE, 9, e96374.

Warrier, V & Baron-Cohen, C, (2016) Genetics of Mathematical Aptitude. eLS, (DOI: 10.1002/9780470015902.a0026848).

Warrier V, Grasby K, Uzefovsky F, Toro R, Smith P, Chakrabarti B, Khadake J, Mawbey-Adamson E, Litterman N,  Hottenga J, Lubke G, Boomsma D, Martin NG, Hatemi PK, Medland SE, Hinds DA, Bourgeron T, and Baron-Cohen S (2017) A genome-wide meta-analysis of cognitive empathy: Heritability and correlates with psychiatric conditions, psychological traits and cognition. Molecular Psychiatry. [Epub ahead of Print]